Genes and gene sequence analysis. Medical search. Frequent questions

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)

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)
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)
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)
A few SEPTIN9 gene mutations have been identified in individuals with hereditary neuralgic amyotrophy, a disorder characterized by episodes of severe pain and muscle wasting (amyotrophy) in the shoulders and arms. (medlineplus.gov)
However, the relation between SEPTIN9 gene mutations and immune function is unclear. (medlineplus.gov)
Genetic sequences taken from people who caught the virus at the Wuhan seafood market likely had three mutations that differed from the original viral sequence, Pond and Bloom both estimate. (infantry-center.com)
The most common cause of HCM is now known to be one of over 200 possible mutations in at least 10 genes that involve sarcomeric proteins. (medscape.com)

Genetic variants identified by WES were confirmed by polymerase chain reaction (PCR)-Sanger sequencing. (biomedcentral.com)
This technique, also known as "directed sequencing," employs a series of Sanger sequencing reactions to either confirm the reference sequence of a known plasmid or PCR product based on the reference sequence (sequence confirmation service) or to discover the unknown sequence of a full plasmid or PCR product by designing primers to sequence overlapping sections (sequence discovery service). (wikipedia.org)
The underlying method for sequencing is the Sanger chain termination method which can have read lengths between 100 and 1000 basepairs (depending on the instruments used). (wikipedia.org)
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)

Whole-exome sequencing and high through put genotyping identified KCNJ11 as the thirteenth MODY gene. (degruyter.com)
single gene testing, a panel of genes, or whole exome analysis. (labcorp.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)
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)

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)
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)
In garlic, the next-generation sequencing analysis based on RNA from renewal buds resulted in de novo assembly of 128,000 unigenes that were annotated and analyzed with respect to Gene Ontology (GO) and metabolic pathways [ 28 ]. (springeropen.com)

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)
Large scale gene analysis of most organisms is hampered by incomplete genomic sequences. (biomedcentral.com)
The identification of potential gene sequences (pHaps) from soybean allows us to begin to get a picture of the genomic history of the organism as well as begin to observe the evolutionary fates of gene copies in this highly duplicated genome. (biomedcentral.com)
Genomic sequencing of selected loci indicate that intron-like intervening sequences are numerous and are approximately 220 bp in length. (biomedcentral.com)
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)
With genomic long-range PCR, we amplified all introns and exons of the MDH1 gene (23.4 kb). (molvis.org)
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)
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)
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)
Garlic contains various bioactive compounds whose metabolic pathways, plant-pathogen interactions, defensive genes, identify interaction networks, and functional genomics were not previously predicted in the garlic at the genomic level. (springeropen.com)

A common approach to the mutational screening of candidate genes consists of sequencing their exons and immediate intron boundaries. (molvis.org)
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)

DEGs, or Differentially Expressed Genes, are genes whose expression levels show significant differences between two or more conditions or experimental groups. (pharmiweb.com)
After identifying Differentially Expressed Genes (DEGs), we delve deeper into their functional significance. (pharmiweb.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)

We compare all five currently sequenced Y. pestis genomes and the corresponding features in Yersinia pseudotuberculosis . (asm.org)
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)

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)

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)
Our study contains an extensive sequencing and functional gene-annotation analysis of A. sativum L. The findings provide insights into the molecular basis of TFs, defensive genes, and a reference for future studies on the genetics and breeding of A. sativum L. (springeropen.com)

80%) and biological pathways (such as adipocytokine, Notch, Hedgehog and NOD-like receptor signaling) were not identified by previous gene array studies. (mdpi.com)
We compared the ortholog gene family of the A. sativum transcriptome to A. thaliana , O. sativa , and Z. mays and found that 12,077 orthologous gene families are specific to A. sativum L. Furthermore, we identified genes involved in plant defense mechanisms, their protein-protein interaction network, and plant-pathogen interaction pathways. (springeropen.com)

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)
Through transcriptome analysis can be proven that there is an effect on the transcript, causing a splice site defect, an inclusion of a pseudo-exon, exclusion of a real exon or loss of expression of the gene. (labcorp.com)
RNA sequencing has been used for the genome-wide quantification of absolute transcript levels, the identification of novel genes, the characterization of transcript structure (including 50 and 30 ends, introns, and exons), and the mining of molecular markers. (springeropen.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 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 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)
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)
It is possible to count the number of transcripts to determine the amount of gene activity - also called gene expression - in a certain tissue type. (labcorp.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)
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)
Alterations in the activity (expression) of the SEPTIN9 gene are associated with certain cancers. (medlineplus.gov)
The altered gene expression may enhance several cancer-related events such as cell division (proliferation), cell movement, and the development of new blood vessels (angiogenesis) that nourish a growing tumor. (medlineplus.gov)
An ERh gene expression profile was identified and was markedly different from the ERa signature. (lu.se)
Conclusion: Expression of ERh is an independent marker for favorable prognosis after adjuvant tamoxifen treatment in ERa-negative breast cancer patients and involves a gene expression program distinct from ERa. (lu.se)
How Reliable Are Gene Expression-Based and Immunohistochemical Biomarkers Assessed on a Core-Needle Biopsy? (lu.se)

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)

Primer walking is a method to determine the sequence of DNA up to the 1.3-7.0 kb range whereas chromosome walking is used to produce the clones of already known sequences of the gene. (wikipedia.org)
The term "chromosome walking" is used instead when the sequence is known but there is no clone of a gene. (wikipedia.org)
Chromosome walking is a technique used to clone a gene (e.g., disease gene) from its known closest markers (e.g., known gene) and hence is used in moderate modifications in cloning and sequencing projects in plants, fungi, and animals. (wikipedia.org)
Chromosome walking is time-consuming, and chromosome landing is the method of choice for gene identification. (wikipedia.org)
The first is called chromosome (or primer) walking and starts with sequencing the first piece. (wikipedia.org)
Haplotype analysis revealed a chromosome region of 475 kb containing the mutation in the GJA8 gene was harbored by two families. (molvis.org)

Together, this dataset provides a resource for immunologists that can be integrated with future single-cell immune repertoire and transcriptome sequencing datasets. (nature.com)
In recent years, the development of next-generation sequencing (NGS) technology has offered a significant and cost-efficient tool for the generation of transcriptomic datasets in nonmodel species using several platforms, such as Roche 454, Illumina HiSeq, and Applied Biosystems SOLiD [ 2 ]. (springeropen.com)

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)

This includes trimming adapter sequences, filtering low-quality reads, and aligning the reads to a reference genome or transcriptome. (pharmiweb.com)
Inference from large, rearranged immunoglobulin transcriptome data sets offers an opportunity to define the upstream regions (5'-untranslated regions and leader sequences). (lu.se)
Consequently, by analyzing RNA sequences in a cell (the transcriptome) we can determine when and where each gene is turned on or off in the cells and tissues. (labcorp.com)
To help characterize their function and potentially reclassify VUSs as disease-causing variants - transcriptome sequencing is offered. (labcorp.com)

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)

The predominance of single nucleotide insertion/deletions and substitution events between genes within families (individual genes and gene paralogs) is consistent with a model of gene amplification followed by single base random mutational events expected under the classical model of duplicated gene evolution. (biomedcentral.com)
Of the 1860 nucleotide sites of the 18S rRNA gene examined, 215 sites (11.6%) were variable and 71 sites (3.8%) were phylogenetically informative. (usu.edu)
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)

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)

张富强* , 李志华 , 张念祖 , 2004: Mapping of Epitope and Determination of cDNA Sequences of Variable Region of MAbs Against E2 Protein of Classical Swine Fever Virus, Virologica Sinica, 19, 591-597. (virosin.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)

DGE analysis facilitates the identification of genes responsive to specific drug treatments. (pharmiweb.com)
Many EST libraries were constructed from RNA extracted from various genetic backgrounds, thus gene identification from these sources is complicated by the existence of both gene and allele sequence differences. (biomedcentral.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)
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)
Identification of putative novel class-I lanthipeptides in firmicutes: A combinatorial in silico analysis approach performed on genome sequenced bacteria and a close inspection of Z-geobacillin lanthipeptide biosynthesis gene cluster of the Thermophilic geobacillus sp. (lu.se)

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)

Sixteen new sequences of the chloroplast gene rbcL were used to assess evolutionary relationships in Dennstaedtiaceae. (usu.edu)

Practical considerations such as the necessary cost and time required to generate and analyze each single-cell sequencing sample has been a limitation to performing large-scale experiments (i.e., with many samples). (nature.com)
Bloom started out trying to find early genetic sequences of the virus published by other researchers so he could analyze them himself. (infantry-center.com)
He was able to analyze 13 of the 45 sequences and noted their differences from those that had already been examined. (infantry-center.com)

The SEPTIN9 gene provides instructions for making a protein called septin-9, which is part of a group of proteins called septins. (medlineplus.gov)

Bioinformatics analysis of the sequence variants was performed through computational predictive programs. (molvis.org)

For example, the gene for a disease may be located near a specific marker such as an RFLP on the sequence. (wikipedia.org)
赵振芬 , 黄亚东 , 王林川 , 刘公平 , 辛朝安 , 2000: Study on RT-PCR／RFLP of Spike Protein S1 Gene of Avian Infectious Brochitis Virus H Strain, Virologica Sinica, 15, 197-199. (virosin.org)

This is the first study including molecular studies of 11 MODY genes in Turkish children. (degruyter.com)
Molecular functions of small and large gene families appear to be non-randomly distributed possibly indicating a difference in retention of duplicates or local expansion. (biomedcentral.com)
马玉玲 , 杨德吉* , 陆承平 , 2005: Establishment of a RT-PCR Assay for the BLSV Gene and the Molecular Detection of BLS, Virologica Sinica, 20, 197-199. (virosin.org)

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)

Genome Sequence of Geobacillus sp. (lu.se)

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)

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)

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)

Maturity onset diabetes of the young in India - a distinctive mutation pattern identified through targeted next-generation sequencing. (degruyter.com)
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)

姚智慧 , 董关木 , 俞永新 , 1999: Cloning，Sequencing and Expressing of S Segment Coding Gene of Seoai Virus R22 Strain, Virologica Sinica, 14, 322-327. (virosin.org)
李红卫 , 刘湘涛 , 李小兵 , 韩雪清 , 殷震 , 1999: Cloning and Sequencing of Envelope Glycoprotein E0 Gene of Hog Cholera Virus Strain C, Virologica Sinica, 14, 169-173. (virosin.org)
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)
潘杰彦陈德胜戴亚斌陈溥言 , , , , 2001: Sequencing and Sequence Analysis of Sl Spike Protein Gene from Avian Infectious Bronchitis Virus Proventriculus Strain Isolated in Qingdao(SD／97／02), Virologica Sinica, 16, 377-381. (virosin.org)

The DNA of interest may be a plasmid insert, a PCR product or a fragment representing a gap when sequencing a genome. (wikipedia.org)
The fragment is first sequenced as if it were a shorter fragment. (wikipedia.org)
蒋琳 , 杨恭 , 沈心亮 , 2000: Cloning and Sequence Analysis of the 1.3 kb eDNA Fragment from Open Reading Frame 2(ORF2)of Hepatitis E Virus(HEV), Virologica Sinica, 15, 237-242. (virosin.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)
But by studying how the viral genes mutate over time, researchers like Bloom can reconstruct their history, figuring out which cases came first and how the virus changed as it moved through the population. (infantry-center.com)
Other researchers agreed that it's important to track down other early sequences. (infantry-center.com)
Comparisons of the protein coding portions of the study subjects DNA called the researchers attention to missense variations of the DCTN4 gene. (washington.edu)

Integrated chromosomal and plasmid sequence analyses reveal diverse modes of carbapenemase gene spread among Klebsiella pneumoniae. (ox.ac.uk)
Thus, new chromosomal regions present in the vicinity of a gene could be identified. (wikipedia.org)

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)
The results of this study expand the gene mutation spectrum of congenital cataracts. (molvis.org)
The most common mutation results in the replacement of the protein building block (amino acid) arginine with the amino acid tryptophan at position 88 in the septin-9 protein sequence, written as Arg88Trp or R88W. (medlineplus.gov)
This research group previously published their sequencing results and associated symptoms for 181 people with DEB. (debra.org.uk)

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)
Second, bla VIM and bla NDM genes have spread via transient associations of many diverse plasmids with numerous lineages. (ox.ac.uk)

We have now established a new data pre-processing procedure to eliminate artifacts caused by a 5'-RACE library generation process, reanalyzed a previously studied data set defining human immunoglobulin heavy chain genes, and identified novel upstream regions, as well as previously identified upstream regions that may have been identified in error. (lu.se)
The NGS workflow was based on a custom AmpliSeq™ panel and designed for sequencing of human genes on an Ion PGM™ Sequencer. (researchgate.net)
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)

Duplication of genetic material within the SEPTIN9 gene has also been identified in affected individuals. (medlineplus.gov)

DGE analysis elucidates how genes respond to environmental stimuli, such as heat stress, chemical exposure, or pathogen infection. (pharmiweb.com)
The patients selected for sequencing were from the Early Pseudomonas Infection Control (EPIC) Observational Study, a project at the Seattle Childrens Research Institute, and the North American Cystic Fibrosis Genetic Modifiers Study. (washington.edu)

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)

Changes in the SEPTIN9 gene may alter the sequence of amino acids in certain septin-9 isoforms in ways that interfere with their function. (medlineplus.gov)

DGE analysis provides critical insights into the genetic programs governing various stages of development. (pharmiweb.com)
Finding earlier sequences like these might help reveal new insights into the SARS-CoV-2 virus' earliest days, said Jesse Bloom, the article's author, who studies viral evolution at the Fred Hutchinson Cancer Research Center in Seattle. (infantry-center.com)

Anatomy6

Organisms77

Diseases7

Chemicals and Drugs67

Analytical, Diagnostic and Therapeutic Techniques and Equipment22

Phenomena and Processes58

Disciplines and Occupations5

Anthropology, Education, Sociology and Social Phenomena1

Technology, Industry, Agriculture4

Information Science5

Health Care20

Geographicals11

Susceptibility genes1

Mutations19

Sanger5

Exome9

Ontology4

Genomic10

Candidate genes3

Differentially Expressed Genes2

Loci3

Genomes2

Pathway2

Annotation3

Pathways2

Transcript4

Expression25

Transcriptional2

Chromosome6

Datasets2

Exon1

Transcriptome4

Alleles2

Nucleotide3

Genetics1

CDNA1

Enrichment1

Identification5

Phylogenetic1

Evolutionary1

Analyze3

Proteins1

Bioinformatics1

RFLP2

Molecular3

Conclusions1

Genome Sequence1

Immune1

Isolates1

Classifications1

Next-generation3

Strain4

Fragment3

Researchers4

Chromosomal2

Results5

Lineages2

Human4

Genetic material1

Infection2

Promoter2

Amino acids1

Insights2