• The aim of this study is to investigate both novel and proven mutations of 11 MODY genes in Turkish children by using targeted next generation sequencing. (degruyter.com)
  • Studies of index cases was done with MISEQ-ILLUMINA, and family screenings and confirmation studies of mutations was done by Sanger sequencing. (degruyter.com)
  • Eighteen patients have GCK mutations, four have HNF1A , one has HNF4A , one has HNF1B , two have NEUROD1 , one has PDX1 gene variations and one patient has both HNF1A and HNF4A heterozygote mutations. (degruyter.com)
  • Very high frequency of novel mutations (42%) in our study population, supports that in heterogenous disorders like MODY sequence analysis provides rapid, cost effective and accurate genetic diagnosis. (degruyter.com)
  • Therefore, we reasoned that MDH1 could correspond to the RP28 locus, and mutations in its sequence could be responsible for the disease in a manner similar to that of pathogenic changes in IDH3B . (molvis.org)
  • However, since pathogenic mutations can sometimes be located deep within introns, as was recently shown for retinal degeneration genes as well [ 7 , 8 ], we decided to analyze the full MDH1 sequence. (molvis.org)
  • Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most of the related pathogenic genes are not known. (nature.com)
  • We identified 91 genes, including 38 new NDD genes, with an excess of de novo mutations or private disruptive mutations in 5.7% of cases. (nature.com)
  • Figure 2: Targeted sequencing highlights genes reaching significance for de novo mutations and private disruptive variant burden. (nature.com)
  • Recurrent de novo mutations implicate novel genes underlying simplex autism risk. (nature.com)
  • 2005). Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations. (cincinnatichildrens.org)
  • Promoter analysis of PTEN will identify mutations in about 10% of patients with Cowden syndrome. (cincinnatichildrens.org)
  • Mutations in the gene bone morphogenic protein receptor type 2 ( BMPR2 ) were reported as the most common genetic cause of PAH and have proven to be associated with long-term outcomes in IPAH, HPAH, and anorexigen-associated PAH [ 5 ]. (biomedcentral.com)
  • At least 17 DPY19L2 gene mutations have been found in men with globozoospermia, a condition characterized by abnormal sperm cells that have a round head and no acrosome. (medlineplus.gov)
  • Most of these mutations delete large regions of the gene or the whole gene. (medlineplus.gov)
  • MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia. (medlineplus.gov)
  • To identify disease-causing gene mutations in 21 northern Chinese families with congenital cataracts. (molvis.org)
  • The 12 gene mutations included one nonsense, one splice site, seven missense, and three insert and deletion (INDELs) mutations. (molvis.org)
  • Of the 13 patients with pathogenic gene mutations, five (38.5%) were affected by mutations in lens crystallin genes, three (23%) were affected by mutations in connexin genes, three (23%) were affected by mutations in transcription factor genes, one (7.7%) was affected by a mutation in a transmembrane transporter gene, and one (7.7%) was affected by a mutation in a chromatin-modifying protein gene. (molvis.org)
  • Previous studies regarding gene mutations in congenital cataracts have used Sanger sequencing in known disease-causing genes. (molvis.org)
  • The uCGP test is a next-generation sequencing assay that identifies mutations in 60 genes associated with bladder cancer . (medscape.com)
  • For practical purposes, depending on the enzyme activity and the presence of mutations in the G6Pase and T genes, respectively, GSD type I may be subdivided into 2 major forms. (medscape.com)
  • It is an autosomal recessive disorder in which there is an AGL gene mutations which causes deficiency in glycogen debranchinging enzyme and limited storage of dextrin. (medscape.com)
  • Mutation analysis of the TBCE gene of this syndrome was shown to be due to Polymerase chain reaction/single-strand mutations in the TBCE gene in chromosom- conformation polymorphism analysis and al area 1q42-q43 [ 4,5 ]. (who.int)
  • Whole genome sequencing can also provide insights into the specific genes or mutations that may be linked to antibiotic resistance. (folkhalsomyndigheten.se)
  • Testing for this gene is also available as part the Metaboseq panel by next-generation sequencing and the Elevated C16 Gene Sequencing panel by Sanger sequencing, which also includes the SLC25A20 gene. (cincinnatichildrens.org)
  • Genetic variants identified by WES were confirmed by polymerase chain reaction (PCR)-Sanger sequencing. (biomedcentral.com)
  • Sanger sequencing was used to perform the cosegregation analysis. (molvis.org)
  • Compared with traditional Sanger sequencing, targeted NGS for genetic testing of congenital cataracts markedly increases the mutation detection rate and is cost-effective. (molvis.org)
  • 16S rRNA and ITS regions of extracted bacterial and fungal genomic DNA were amplified and sequenced using Sanger sequencing. (cdc.gov)
  • Our experimental strategy shows that long-range genomic PCR followed by UHTs provides an excellent system to perform a thorough screening of candidate genes for hereditary retinal degeneration. (molvis.org)
  • A common approach to the mutational screening of candidate genes consists of sequencing their exons and immediate intron boundaries. (molvis.org)
  • Interestingly, both TGF-beta1 and SERPINE2 have been identified as candidate genes in COPD genetic linkage and association studies. (nih.gov)
  • Thirty-four known candidate genes for congenital cataracts were analyzed in the probands of 21 families with targeted next-generation sequencing (NGS). (molvis.org)
  • However, this approach is becoming increasingly infeasible as the list of candidate genes to be tested grows. (molvis.org)
  • The recent development of homologous recombination-mediated gene targeting (GT) techniques has made it easy to modify nucleotide sequences in plant genomes. (go.jp)
  • Such EST data form a valuable foundation for the understanding of the gene composition and genomic biology of yet-to-be fully sequenced genomes [ 3 ]. (biomedcentral.com)
  • Plant genomes also evolve many tandem duplicated genes. (confex.com)
  • Understanding of the genomes and evolution of duplicated genes are of significance for genetic improvement of these crops. (confex.com)
  • To further investigate the genomic diversity among this group and to help characterize lineages of the plague organism that have no sequenced members, we present here the genomes of two isolates of the "classical" antiqua biovar, strains Antiqua and Nepal516. (asm.org)
  • We compare all five currently sequenced Y. pestis genomes and the corresponding features in Yersinia pseudotuberculosis . (asm.org)
  • The differentially expressed genes (DEGs) in lung tissue between the two groups were identified by RNA-seq , and functional annotation and Gene Ontology (GO)/ Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analyses were performed. (bvsalud.org)
  • Gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis were performed to predict the functional effect of mutant genes. (biomedcentral.com)
  • However, this analysis requires accurate reference genomes to identify the specific genes from which RNA reads originate. (osti.gov)
  • Sample-specific meta-genomic assembled genomes (MAGs) were used as reference genomes to accurately identify the origin of RNA reads, and transcript ratios of genes with opposite transcription responses were compared to eliminate biases related to differences in organismal abundance, an approach hereafter named the "diametric ratio" method. (osti.gov)
  • To the extent of their knowledge, the researchers think that this might be the first time that genetic variants underlying complex trait were discovered by sequencing all the protein-coding portions of the genomes of people at each extreme of a disease spectrum. (washington.edu)
  • For this reason, mock bacterial community samples were generated, sequenced and analysed with use of multiple bioinformatics approaches. (gla.ac.uk)
  • Improved access to bioinformatics tools enables scientists to process, manage, and store raw data, annotate sequences to define genes, and quantitate RNA sequence data to get insight into gene expression patterns. (genengnews.com)
  • Bioinformatics analysis of the sequence variants was performed through computational predictive programs. (molvis.org)
  • A secondary goal that should be sought by a bioinformatics facility is to make algorithms and analysis methods accessible for non-computational biologists. (lu.se)
  • In a subset of 10 representative patients, bacterial DNA was extracted from ascites and whole blood, followed by 16S rRNA gene amplicon sequencing. (frontiersin.org)
  • The 18S rRNA gene appeared to be evolving at about one ninth of the rate of rbcL, and therefore 18S data should provide increased resolution for phylogenetic studies of the early branches in fern evolution. (usu.edu)
  • The analysis of phylogenetic trees of Leptin showed that there were three breeds of goats in one branch and two breeds of goats in different branches. (unair.ac.id)
  • Phylogenetic analysis with DNA amplification technologies. (who.int)
  • Several techniques based on the polymerase chain reaction (PCR) to facilitate the characterization and phylogenetic analysis of variola virus isolates were described. (who.int)
  • Phylogenetic analyses of full-length env sequences indicated that the panel included members of all major sequence subtypes of HIV-1 group M (clades A to G), as well as an intersubtype recombinant (F/B) from an infected individual in Brazil. (duke.edu)
  • These results indicate that the env genes of primary HIV-1 isolates collected worldwide can vary considerably in their genetic, phylogenetic, and biological properties. (duke.edu)
  • Here, we used a combination of long- and short-read sequence data of Klebsiella pneumoniae isolates (n = 1,717) from a European survey to perform an integrated, continent-wide study of chromosomal and plasmid diversity. (ox.ac.uk)
  • All isolates were identified as D. citri by analyzing the sequences at the internal transcribed spacer (ITS) rDNA region using primers of ITS1/ITS4 or at β-tubulin using primer Btdcitri-F/R. Therefore, based on the present study, where the results of morphological identification of conidial type were consistent with DNA sequence analysis of certain gene, choosing a suitable method for a fast diagnosis of citrus melanose was suggested. (online-rpd.org)
  • To generate a more representative panel of genetically diverse envelope genes, we PCR amplified, cloned, and sequenced complete gp160 coding regions of 35 primary (peripheral blood mononuclear cell-propagated) HIV-1 isolates collected at major epicenters of the current AIDS pandemic. (duke.edu)
  • For contact tracing or inquiries related to antibiotic resistance, whole genome sequencing (WGS) of bacterial isolates is offered. (folkhalsomyndigheten.se)
  • Whole-exome sequencing and high through put genotyping identified KCNJ11 as the thirteenth MODY gene. (degruyter.com)
  • Demographic and clinical data were recorded in detail, and peripheral blood samples were collected for whole-exome sequencing (WES). (biomedcentral.com)
  • Our findings provide preliminary data of exome sequencing to identify susceptibility loci for pSS-PAH and enriched our understanding of the genetic etiology for pSS-PAH. (biomedcentral.com)
  • Researchers tracked down a handful of previously unappreciated susceptibility genes using exome sequences for more than 244,000 European women with or without breast cancer. (genomeweb.com)
  • Through a whole-exome sequencing-based analysis of rare CNVs in 98 high-risk Northern Finnish breast cancer cases, the researchers aimed to tease out the role in breast cancer risk. (genomeweb.com)
  • An exome sequencing lab in the UW Department of Genome Sciences. (washington.edu)
  • Exome sequencing was done by UW researchers in the laboratory of Deborah Nickerson, UW professor of genome sciences. (washington.edu)
  • Exome Sequencing Project scientists are using an approach similar to the one in this study to examine the genetics behind resistance and susceptibility to other chronic conditions like obesity, heart attacks and hypertension. (washington.edu)
  • Adapting a similar strategy to determine the genetics underlying other complex human traits may require exome sequencing of a much larger sample sizes, the researchers noted. (washington.edu)
  • As the costs of exome sequencing are dropping rapidly and more efficient statistical analysis is becoming available, we think medical researchers enthusiasm for this approach will continue," Bamshad predicted. (washington.edu)
  • abstract = "The Leptin gene is the gene that produces the leptin hormone, which is released from adipose tissue and can increase the productivity of animals. (unair.ac.id)
  • DEGs, or Differentially Expressed Genes, are genes whose expression levels show significant differences between two or more conditions or experimental groups. (pharmiweb.com)
  • In genetics and genomics research, gene expression refers to the process by which information encoded in a gene's DNA sequence is converted into functional proteins or RNA molecules. (pharmiweb.com)
  • When studying gene expression, researchers often compare gene expression profiles between different biological samples or experimental conditions, such as healthy and diseased tissues, treated and untreated cells, or different developmental stages. (pharmiweb.com)
  • By analyzing the expression levels of thousands of genes simultaneously, researchers can identify genes that are upregulated (higher expression) or downregulated (lower expression) in one condition compared to another. (pharmiweb.com)
  • How to Do Differential Gene Expression Analysis? (pharmiweb.com)
  • Differential Gene Expression analysis is a fundamental tool for identifying genes whose expression levels significantly differ between experimental conditions or biological samples. (pharmiweb.com)
  • With RNA-seq , we can capture and quantify the abundance of transcripts, revealing the dynamic landscape of gene expression within a cell or tissue. (pharmiweb.com)
  • Once the reads are mapped, we quantify the expression level of each gene. (pharmiweb.com)
  • Statistical methods are employed to identify genes that exhibit significant changes in expression between experimental conditions. (pharmiweb.com)
  • Various statistical tests, such as the negative binomial, edgeR, or DESeq2, are commonly used to assess differential gene expression. (pharmiweb.com)
  • By subjecting DEGs to gene ontology enrichment analysis, pathway analysis, or functional annotation, we gain insights into the biological processes, molecular functions, and pathways associated with the observed gene expression changes. (pharmiweb.com)
  • By comparing gene expression patterns during embryogenesis or tissue differentiation, we unravel the molecular events that shape organisms, advancing our understanding of developmental biology. (pharmiweb.com)
  • Upstream and downstream sequences of immunoglobulin genes may affect the expression of such genes. (lu.se)
  • This research project attempts to identify the genetic determinants of SHRSP/Gla phenotypes by using mRNA and micro(mi)RNA expression profiling data, in combination with the genome sequence of the SHRSP/Gla and WKY/Gla, to facilitate human translational studies for hypertension and vice versa. (gla.ac.uk)
  • This now enables investigation of how parameters such as clonal expansion relate to gene expression phenotypes [ 28 ], thereby providing novel insights not accessible by bulk sequencing (e.g. (nature.com)
  • 1996). Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression. (cincinnatichildrens.org)
  • The VNTR sequence, which contains the potential G-quadruplex-forming sequence CGC(GGGGCGGGG)n, is involved in the downregulation of α-globin expression. (jascoinc.com)
  • however, it is concluded that the gene is expressed ubiquitously throughout all tissue types with more expression within tissues involved in the immune system and skeletal muscle tissue. (wikipedia.org)
  • Without further testing in expression, it is hard to determine how levels alter depending on disease state or the role this gene plays in these illnesses. (wikipedia.org)
  • Using peer-reviewed algorithms to perform gene expression analyses, you can view your results using built in plots or Gene Codes' latest addition - CodeLinker - for in depth analysis, clustering, and data mining. (genecodes.com)
  • RNA Sequencing and Related Differential Gene Expression Analysis in a Mouse Model of Emphysema Induced by Tobacco Smoke Combined with Elastin Peptides. (bvsalud.org)
  • The differential expression of the selected genes were verified using qRTâ PCR and immunohistochemistry (IHC). (bvsalud.org)
  • The expression levels of 1159 genes in the EP group differed significantly (529 up-regulated and 630 down-regulated) from those in the NORMAL group. (bvsalud.org)
  • The differential expression of the selected DEGs were verified by qRTâ PCR and IHC, and the expression trends of these genes were consistent with those identified by RNA-seq . (bvsalud.org)
  • GXD's primary emphasis is on endogenous gene expression during development. (jax.org)
  • We reasoned that gene expression profiling of COPD lungs could reveal previously unidentified disease pathways. (nih.gov)
  • The gene expression pattern was influenced by the percentage of the sample made up of parenchyma. (nih.gov)
  • Gene expression was related to forced expiratory flow between 25 and 75% of forced expiratory volume (FEF(25-75%) % predicted) revealing a signature gene set of 203 transcripts. (nih.gov)
  • Scientists armed with whole genome sequence data can now ask questions about genome structure and organization that impact gene expression. (genengnews.com)
  • Amy Radunz, a nutritionist from the department of animal sciences at the University of Wisconsin in River Falls, has partnered with molecular biologist Hasan Khatib, an associate professor at University of Wisconsin-Madison, to ask how differences in maternal diet during pregnancy induce gene expression and DNA methylation changes in fetal tissues in sheep. (genengnews.com)
  • 范涛 , 高建恩 , 陶其敏 , 2000: Cloning,Sequence Analysis and Expression of Partial HCV Nonstructural Protein 2,3 Gene, Virologica Sinica, 15, 400-404. (virosin.org)
  • Is the Subject Area "Gene expression" applicable to this article? (plos.org)
  • The first example describes a research project involving sequencing based gene expression analysis and the second example describes a microarray service facility use of BASE. (lu.se)
  • Analyses include generation of gene expression and sequencing data with the ultimate goal to build an infrastructure for future real-time clinical implementation. (lu.se)
  • Comparing the DNA from patients at the best and worst extremes of a health condition can reveal genes for resistance and susceptibility. (washington.edu)
  • SNPs representing several sequence variants were identified from population data. (lu.se)
  • Figure 3: Protein locations of private disruptive variants in new candidate NDD risk genes. (nature.com)
  • CPT II deficiency is caused by pathogenic variants in the CPT2 gene, and this condition is inherited in an autosomal recessive manner. (cincinnatichildrens.org)
  • PCR-based sequencing of entire coding region, intron/exon boundaries, as well as known pathogenic variants (HGMD 2017.3) in the promoter and deep intronic regions of the specified gene(s). (cincinnatichildrens.org)
  • Comparing your sequence to a prototypical strain becomes easier with Sequencher 's Reference Sequence and Variance Table features which makes it a snap to locate and edit or annotate variants with its dynamic link to the underlying data. (genecodes.com)
  • Genomic sequencing of selected loci indicate that intron-like intervening sequences are numerous and are approximately 220 bp in length. (biomedcentral.com)
  • Genetically, RP is a highly heterogeneous condition, since around 50 genes or loci, most of which act as individual Mendelian entities, have been implicated so far ( RetNet ). (molvis.org)
  • This identified approximately 140 chromosome loci where nucleotides deviated from the reference sequence GRCh37 hg19 comprising the three genes TRPV1, LTB4R and LTB4R2. (researchgate.net)
  • We totally identified 141 pathogenic variant loci of 129 genes in these 34 pSS-PAH patients, using WES analysis. (biomedcentral.com)
  • It has also been demonstrated that STAT1 (Signal Transducer And Activator Of Transcription 1), a transcription factor (TF) crucially involved in the IFNγ pathway, binds consensus sequences that, in humans, are located with a high frequency in the LTRs (Long Terminal Repeats) of the MER41 family of primate-specific HERVs (Human Endogenous Retrovirus). (biorxiv.org)
  • Of note, functionally-relevant differences between humans and chimpanzees are observed regarding the 3 main components of this pathway: i) the protein sequences of immunes TFs binding MER41 LTRs, ii) the insertion sites of MER41 LTRs in the promoter regions of ID-associated genes and iii) the protein sequences of the targeted ID-associated genes. (biorxiv.org)
  • Genes in this pathway have been shown to be involved in the activation of transforming growth factor (TGF)-beta1 and matrix metalloproteinases and are subject to inhibition by SERPINE2. (nih.gov)
  • The method adds a large amount of genetic information as a basis for complete analysis of TRPV1 ion channel genetics and its functional consequences. (researchgate.net)
  • This alignment process enables the determination of the origin of each read, allowing us to associate it with specific genes or genomic regions. (pharmiweb.com)
  • Evaluation of nanopore-based sequencing technology for gene marker based analysis of complex microbial communities. (gla.ac.uk)
  • Nucleic acid sequencing can provide a detailed overview of microbial communities in comparison with standard plate-culture methods. (gla.ac.uk)
  • However, due to a capital cost of HTS platforms and requirements for batch analysis, genomics-based studies are still not being used as a standard method for the comprehensive examination of environmental or clinical samples for microbial characterization. (gla.ac.uk)
  • Furthermore, this study developed sophisticated library preparation and data analyses methods to enable high-accuracy analysis of amplicon libraries from complex microbial communities for sequencing on the nanopore platform. (gla.ac.uk)
  • The physiological conditions experienced by a microbial community can thus be inferred using meta-transcriptomic sequencing by comparing transcription levels of specifically chosen genes. (osti.gov)
  • Please complete a project submission form on the VAMPS ( Visualization and Analysis of Microbial Population Structures) site . (mbl.edu)
  • Pamela Camejo of Pathogenomica injects microbial samples into a library for sequencing. (wisc.edu)
  • Microbial samples are injected into a library for sequencing. (wisc.edu)
  • The basis of the GENSAM project is the joint national management of clinical microbial sequencing data. (folkhalsomyndigheten.se)
  • The candidate pathogenic genes may be the potential genetic markers for early warning of this disease. (biomedcentral.com)
  • Maturity onset diabetes of the young in India - a distinctive mutation pattern identified through targeted next-generation sequencing. (degruyter.com)
  • Conclusions Results suggested that the NGS approach based on AmpliSeq™ libraries and Ion Personal Genome Machine (PGM) sequencing is a highly efficient mutation detection method. (researchgate.net)
  • 1993). Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. (cincinnatichildrens.org)
  • Based on the DNA sequencing results of leptin genes in five goats, five SNPs were located in the coding sequence (CDS), SNPs g.17T/A, g.43T/A, g.74G/A, g.93C/A. and d. 386A/G. SNP was a missense mutation and a silent mutation. (unair.ac.id)
  • Approximately 80% of patients with CS, 60% patients with BRRS, 20% of patients with PS/PSL syndrome will have a PTEN mutation identifiable by sequencing. (cincinnatichildrens.org)
  • Deletion/duplication analysis of PTEN will detect a mutation in about 10% of individuals with Bannayan-Riley-Ruvalcaba syndrome. (cincinnatichildrens.org)
  • Using whole-genome sequencing on drug-exposed cell lines, researchers saw high mutation rates in control cell lines intermittently treated with a compound called CX-5461. (genomeweb.com)
  • Genotyping and haplotype analyses were performed in two patients with a p.V44M mutation in the GJA8 gene. (molvis.org)
  • Haplotype analysis revealed a chromosome region of 475 kb containing the mutation in the GJA8 gene was harbored by two families. (molvis.org)
  • The p.V44M mutation in the GJA8 gene was the most common mutation and was due to a founder effect within the Chinese cohort studied. (molvis.org)
  • The results of this study expand the gene mutation spectrum of congenital cataracts. (molvis.org)
  • Sequencing of the neuraminidase gene showed that the resistant viruses contained an H275Y mutation, and S247N was also identified in the neuraminidase gene of one seasonal influenza A(H1N1) virus that exhibited enhanced resistance. (who.int)
  • A cohort of 80 healthy subjects of Western European descent was screened to evaluate and validate the detection of exomic sequences of the coding genes with 25 base pair exon padding. (researchgate.net)
  • All affected persons had homozygous deletion of 12 bp (155-166del) in exon 3 of the TBCE gene. (who.int)
  • Exons 2 (first coding exon), 3 (second cod- and Kuwait: the incidence in Saudi Ara- ing exon) and 12 of the TBCE gene were bia varies from 1:40 000 to 1:100 000 live chosen for the initial screening as they were births [ 6 ]. (who.int)
  • The focus of this study is on the evaluation of nanopore sequencing data: read quality, sequencing errors, alignment quality but also bacterial community structure. (gla.ac.uk)
  • 16S sequencing is performed to determine which bacterial species are present in a clinical sample or isolate. (folkhalsomyndigheten.se)
  • The method uses an internal control sequence (spike) which is amplified and sequenced simultaneously with the sample to facilitate the assessment of the bacterial content and to detect amplification-inhibiting factors in the sample that may lead to a negative result. (folkhalsomyndigheten.se)
  • Functional annotation of gene sequences indicate functional classifications are not randomly distributed among gene families containing few or many genes. (biomedcentral.com)
  • These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. (nih.gov)
  • Also, gene set enrichment analysis (GSEA) and immune infiltrating analyses were conducted to understand function annotation and the role of the signature in the tumor microenvironment. (scielo.br)
  • Southern and Northern analyses, using DNA and RNA extracted from infected Cf-124T cells, revealed the presence of both TrV1- and TrV4-carrying genome segments and transcripts, but neither DNA, at least in episomal form, nor mRNA persisted for more than a few days p.i. (gc.ca)
  • We used the ESTminer suite of programs to identify potential soybean gene transcripts from a single genetic background allowing us to observe functional classifications between gene families as well as structural differences between genes and gene paralogs within families. (biomedcentral.com)
  • Promoter GXP_141972 was chosen for further analysis because of the large number of supporting transcripts, and it was found to be conserved in 14 of 14 orth. (wikipedia.org)
  • The CDV3 gene is on chromosome 3 (3q22.1). (wikipedia.org)
  • A search of a 35-kilobase region of the human Y chromosome necessary for male sex determination has resulted in the identification of a new gene. (nih.gov)
  • This can be achieved by counting the number of reads that align to each gene or by estimating transcript abundance using sophisticated algorithms. (pharmiweb.com)
  • We report on the cloning and sequencing of two Tranosema rostrale ichnovirus (TrIV) genes, and assess their relatedness to TrV1, the gene encoding the most abundant TrIV transcript in last-instar Choristoneura fumiferana larvae parasitized by T. rostrale . (gc.ca)
  • In addition, such an analysis should avoid biases in transcript counts related to differences in organism abundance. (osti.gov)
  • This gene is conserved and Y-specific among a wide range of mammals, and encodes a testis-specific transcript. (nih.gov)
  • The Committee concluded that additional work may be needed to assess the viability of the stocks held in VECTOR, and that further molecular characterization of additional strains may be valuable in helping to identify strains from which further DNA sequences could be determined. (who.int)
  • Present knowledge of human immunodeficiency virus type 1 (HIV-1) envelope immunobiology has been derived almost exclusively from analyses of subtype B viruses, yet such viruses represent only a minority of strains currently spreading worldwide. (duke.edu)
  • Analysis of their deduced amino acid sequences revealed several important differences from prototypic subtype B strains, including changes in the number and distribution of cysteine residues, substantial length differences in hypervariable regions, and premature truncations in the gp41 domain. (duke.edu)
  • In this pilot study, bacteria and fungi encountered by workers at an outdoor cannabis farm that utilized organic practices were elucidated by 16S ribosomal RNA (rRNA) and Internal Transcribed Spacer (ITS) region sequencing, respectively. (cdc.gov)
  • Typically, drinking water analyses only look at the total number of coliform bacteria - a crude estimate that counts both harmful and harmless bacteria, along with measures for bacteria that cause Legionnaires' disease and giardia, and for cryptosporidium. (wisc.edu)
  • Sequence variations between different bacteria provide a unique identity, and the analysis of these sequence enables taxonomic placement. (folkhalsomyndigheten.se)
  • The procedure's high sequence depth allows for these amplicons to be analysed separetely so different bacteria from the same sample can be identified. (folkhalsomyndigheten.se)
  • After identifying Differentially Expressed Genes (DEGs), we delve deeper into their functional significance. (pharmiweb.com)
  • mRNA from the specimens was profiled using Agilent's Functional ID v2.0 array (Agilent, Santa Clara, CA) containing 23,720 sequences. (nih.gov)
  • Scholars@Duke publication: Molecular cloning and analysis of functional envelope genes from human immunodeficiency virus type 1 sequence subtypes A through G. The WHO and NIAID Networks for HIV Isolation and Characterization. (duke.edu)
  • This analysis identified 20 clones, including 1 from each subtype (or recombinant), which expressed fully functional envelope glycoproteins. (duke.edu)
  • 80%) and biological pathways (such as adipocytokine, Notch, Hedgehog and NOD-like receptor signaling) were not identified by previous gene array studies. (mdpi.com)
  • These genes each encode proteins involved in pathways previously found essential for breast cancer development. (genomeweb.com)
  • Furthermore, GSEA and immune infiltrating analyses showed that the signature had close interactions with immune-related pathways and was closely related to CD8 T cells and monocytes in the tumor environment. (scielo.br)
  • 朱函坪 , 刘合宾 , 姚苹苹 , 朱智勇 , 2001: Molecular Cloning and Nucleotide Sequence Analysis of the M Genome Segment of Hantavirus Z37,a Chinese HFRS Vaccine Strain, Virologica Sinica, 16, 15-21. (virosin.org)
  • In the training cohort, Kaplan-Meier analysis and univariate Cox regression model were applied to preliminary screening of prognostic genes. (scielo.br)
  • We describe the first report of RNA sequencing of 5' capped (Pol II) RNAs isolated from acutely hepatitis C virus (HCV) infected Huh 7.5 cells that provides a general approach to identifying differentially expressed annotated and unannotated genes that participate in viral-host interactions. (mdpi.com)
  • The results provide evidence that genes involved in tissue remodeling and repair are differentially regulated in the lungs of obstructed smokers and suggest that they are potential therapeutic targets. (nih.gov)
  • Recent advances in single-cell sequencing enable recovery of the complete adaptive immune receptor sequences in addition to transcriptional information. (nature.com)
  • Synaptic, transcriptional and chromatin genes disrupted in autism. (nature.com)
  • This study aimed to identify polymorphic nucleotides, changes in amino acid components, and species of goats based on GenBank Leptin DNA sequence data. (unair.ac.id)
  • The leptin DNA sequence was aligned with Bioedit to locate SNPs and amino acid changes. (unair.ac.id)
  • The current view is that the relative amount of different amino acids (arginine, methionine, and cysteine) may play a more significant role given that these amino acids contain methyl donor groups that can impact the activity of maternally and paternally imprinted genes. (genengnews.com)
  • One of these, derived from a patient with rapid CD4 cell decline, contained an amino acid substitution in a highly conserved endocytosis signal (Y721C), as mediated virus entry with very poor efficiency, although they did not contain sequence changes predicted to alter protein function. (duke.edu)
  • By contrast, plasmids are usually excluded or analyzed with low-resolution techniques, despite being the primary vectors of antibiotic resistance genes across many key pathogens. (ox.ac.uk)
  • Now, a fledgling company that emerged from the University of Wisconsin-Madison College of Engineering promises to change that by applying high-speed genetic sequencing to the difficult problem of detecting - and for the first time counting - these pathogens. (wisc.edu)
  • We call next-generation sequencing a master key because it can unlock all the known pathogens present in a sample. (wisc.edu)
  • In contrast to metagenomic detection of unknown pathogens which sequences all available genetic material, 16S sequencing specifically targets the small ribosomal subunit. (folkhalsomyndigheten.se)
  • This analysis enables us to pinpoint genes that play pivotal roles in phenotypic variation, disease development, or response to treatments. (pharmiweb.com)
  • In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms. (genomeweb.com)
  • thus, finding disease genes or gene sets is essential for understanding and treating disease. (mdpi.com)
  • However, our understanding of disease is very limited, as only a small proportion of disease genes have been identified. (mdpi.com)
  • To interpret the data, there is an urgent need for computational approaches, especially in the identification of disease genes, which is one of the major tasks for biomedical research. (mdpi.com)
  • In this Special Issue, we are calling for bioinformatic approaches to help interpreting biomedical data and deciphering gene regulation in disease. (mdpi.com)
  • They plumb for gene variations linked to heart disease, for example by putting DNA maps from people with ideal cholesterol levels up against those from people with exceptionally poor levels. (washington.edu)
  • Inference from large, rearranged immunoglobulin transcriptome data sets offers an opportunity to define the upstream regions (5'-untranslated regions and leader sequences). (lu.se)
  • We analyzed the GT rice DNA using a next-generation sequencer, and we performed data analysis to find the transgene integration on the genome. (go.jp)
  • Besides, the best performing library preparation and data analyses methods were used for analysis of environmental samples and compared to high-quality Illumina metagenomics data. (gla.ac.uk)
  • Sequence data from nuclear 18S rRNA genes from several dennstaedtioid ferns were also analyzed and found to support some of the inferences based on rbcL data. (usu.edu)
  • It incorporates new DNA sequence data alignment algorithms with SNP and methylation analysis for next-generation DNA sequence data. (genecodes.com)
  • A total of five goat leptin DNA sequences were extracted from NCBI GenBank data. (unair.ac.id)
  • BASE was initially developed to manage array-based data but is now extended to support storage and analysis of sequencing data. (lu.se)
  • Analysis and execution of standard analysis pipelines for sequencing data will be performed through BASE. (lu.se)
  • thirdly, an external file system for storage of sequencing data that are referenced from BASE. (lu.se)
  • All nucleic acid in the clinical sample is sequenced and the resulting data is analysed by experienced bioinformaticians. (folkhalsomyndigheten.se)
  • It is a platform and database for the automated analysis of whole genome sequencing data. (folkhalsomyndigheten.se)
  • Together, this dataset provides a resource for immunologists that can be integrated with future single-cell immune repertoire and transcriptome sequencing datasets. (nature.com)
  • The more recent duplication event in particular would be expected to result in many paralogous pairs of genes differing by relatively few sequence differences, thus complicating gene identification using ESTs. (biomedcentral.com)
  • Deletion/duplication analysis and targeted variant analysis is also available for this gene. (cincinnatichildrens.org)
  • Phenotypic heterogeneity in monogenic diabetes: The clinical and diagnostic utility of a gene panel-based next-generation sequencing approach. (degruyter.com)
  • Methods A next-generation sequencing (NGS) panel was created for the human TRPV1 gene and in addition, for the leukotriene receptors BLT1 and BLT2 recently described to modulate TRPV1 mediated sensitisation processes rendering the coding genes LTB4R and LTB4R2 important co-players in pharmacogenetic approaches involving TRPV1. (researchgate.net)
  • The Public Health Agency's Next Generation Sequencing (NGS) platform performs massive parallel sequencing of DNA and RNA. (folkhalsomyndigheten.se)
  • Despite the intrinsic complexity of human genome sequences, reads were easily mapped and analyzed, and all algorithms used provided the same results. (molvis.org)
  • Results The amplicons covered approximately 97% of the target sequence. (researchgate.net)
  • These results provided the first report for further studies on the genetic diversity of leptin genes in different local goat breeds. (unair.ac.id)
  • The customer sends a sample, we do the sequencing, and we compare the results to a proprietary database to classify the microbes as pathogenic or non-pathogenic - a bad guy or a good guy. (wisc.edu)
  • Related gene families include plasma proteins and predicted intracellular proteins. (wikipedia.org)
  • In addition, all subtype E and three subtype G viruses initially classified on the basis of partial env sequences were found to cluster in subtype A in the 3' half of their gp41 coding region, suggesting that they are also recombinant. (duke.edu)
  • Upstream sequences were also identified for a set of previously uncharacterized germline gene alleles. (lu.se)
  • Finally, based on the outcomes of the analysis, we define a set of testable hypotheses with respect to the placement of particular alleles in complex IGHV locus haplotypes, and discuss the evolutionary relatedness of particular heavy chain variable genes based on sequences of their upstream regions. (lu.se)
  • These reference sequences exist independently of genome builds. (nih.gov)
  • The following sections contain reference sequences that belong to a specific genome build. (nih.gov)
  • This section includes genomic Reference Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate assemblies. (nih.gov)
  • Reference Sequences (as opposed to reference sequences) are special. (genecodes.com)
  • Sixteen new sequences of the chloroplast gene rbcL were used to assess evolutionary relationships in Dennstaedtiaceae. (usu.edu)
  • The NGS workflow was based on a custom AmpliSeq™ panel and designed for sequencing of human genes on an Ion PGM™ Sequencer. (researchgate.net)
  • Molecular weight: 27.3 kD Protein length: 258 aa Isoelectric point: 5.89 A SAPS analysis on the human CDV3 protein sequence found one uncharged cluster segment from 28-75 aa. (wikipedia.org)
  • 肖颖 , 黄文杰 , 刘忠纯 , 朱帆 , 吴建国 , 2006: Detection of Human Endogenous Retrovirus env Gene in the Blood of Individuals with Schizophrenia by Using Nested RT-PCR, Virologica Sinica, 21, 510-512. (virosin.org)
  • All human infections caused by a new influenza subtype are required to be reported under the International Health Regulations (IHR, 2005).4 This includes any influenza A virus that has demonstrated the capacity to infect a human and its haemagglutinin gene (or protein) is not a mutated form of those, i.e. (who.int)
  • Gene reduction analysis revealed that the gene deletion processes are under selective pressure, and many of the inactivations are probably related to the organism's interaction with its host environment. (asm.org)
  • Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. (nature.com)
  • Using a lentiviral vector containing either H-Ras oncogene and a hairpin targeting p53 or both tumor suppressor genes, NF-1 and p53, Dr. Friedmann-Morvinski can induce the formation of a glioma tumor in mice injected in the brain. (genengnews.com)
  • Identifying the eight-gene signature ( CBX7 , JADE2 , IGF2BP3 , OR2W6P , PRAME , TICRR , KIF4A , and PIMREG ) could accurately identify patients' prognosis and the signature had close interactions with the immunodominant tumor environment, which may provide insight into personalized prognosis prediction and new therapies for PBT patients. (scielo.br)
  • With genomic long-range PCR, we amplified all introns and exons of the MDH1 gene (23.4 kb). (molvis.org)
  • A panel of 11 MODY genes were screened in 43 children with MODY diagnosed by clinical criterias. (degruyter.com)
  • Portability and miniaturised size of the device gives an immense opportunity for de-centralised, in-field, and real-time analysis of environmental and clinical samples. (gla.ac.uk)
  • Torres, F., Barbosa, M. & Maciel, P. Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications. (nature.com)
  • First, bla OXA-48-like genes have spread primarily via the single epidemic pOXA-48-like plasmid, which emerged recently in clinical settings and spread rapidly to numerous lineages. (ox.ac.uk)
  • Metagenomic sequencing engables a thorough mapping of the genetic material in the clinical sample, providing a broader understanding of the microbiological profile. (folkhalsomyndigheten.se)
  • The result of of metagenomic sequencing is the outcome of a collaborative effort between bioinformaticians and clinical microbiologists, where the clinical interpretation confirms and complements the technical analysis. (folkhalsomyndigheten.se)
  • The MDH1 gene maps within the RP28 arRP linkage interval and encodes cytoplasmic malate dehydrogenase, an enzyme functionally related to IDH3B. (molvis.org)
  • One of the genes within the RP28 linkage interval, MDH1 , encodes for the cytosolic form of malate dehydrogenase (EC 1.1.1.37), which is directly connected to the Krebs cycle via the malate-aspartate shuttle. (molvis.org)
  • This gene encodes the alpha chain of type XV collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). (nih.gov)
  • Southern analysis suggests that each gene maps to a different TrIV genome segment, with homologous sequences apparently present on other segments. (gc.ca)
  • ATRX can bind the variable number of tandem repeats (VNTR) sequence in the promoter region of the α-globin gene cluster. (jascoinc.com)
  • Here, we present evidence that the promoter regions of intellectual disability-associated genes are uniquely enriched in LTR sequences of the MER41 HERVs. (biorxiv.org)
  • Moreover, we have not found such a significant enrichment in the promoter regions of genes that associate with autism spectrum disorder (ASD) or schizophrenia. (biorxiv.org)
  • Interestingly, ID-associated genes exhibit promoter-localized MER41 LTRs that harbor TF binding sites (TFBSs) for not only STAT1 but also other immune TFs such as, in particular, NFKB1 (Nuclear Factor Kappa B Subunit 1) and STAT3 (Signal Transducer And Activator Of Transcription 3). (biorxiv.org)
  • Protein CDV3 homolog also known as carnitine deficiency-associated gene expressed in ventricle 3 is a protein that in humans is encoded by the CDV3 gene. (wikipedia.org)
  • The study also looked at the impact of paternally expressed genes: IGF2, PEG1, PEG3, DLK1, and DIO3 for transcriptomic and epigenomic alterations of the imprinted genes in fetal tissues. (genengnews.com)
  • 陈德胜 , 潘杰彦 , 贾立群 , 蔡宝祥 , 陈溥言 , 2001: Sequencing and Homology Analysis for the Nucleocapsid Gene of JS/95/03 Strain of Avian Infectious Bronchitis Virus Isolated from Jiangsu,China, Virologica Sinica, 16, 22-27. (virosin.org)
  • We analyzed twenty fecal samples taken from four premature infants (4-6 time points from each infant), and found significantly higher diametric ratios of genes associated with low oxygen levels in samples of infants later diagnosed with NEC than in samples without NEC. (osti.gov)
  • A conceptual translation was made from NCBI reference sequence NM_017548.4. (wikipedia.org)