Genome types. Medical search. Frequent questions

Changes or mutations that occur in the DNA sequence of a single gene cause this type of inheritance. (medicinenet.com)
The sequence of the human genome obtained by the Human Genome Project, completed in April 2003, provides the first holistic view of our genetic heritage. (medicinenet.com)
Sequence reports provide sequence data related to genes, ESTs, and other object types as well as links to reports at NCBI. (mcw.edu)
Here we report the first full genome sequence of an A. flavus S morphotype, strain AF70. (jcvi.org)
We provide a comprehensive comparison of the A. flavus S-morphotype genome sequence with a previously sequenced genome of an L-morphotype strain (NRRL 3357), including an in-depth analysis of secondary metabolic clusters and the identification SNPs within their aflatoxin gene clusters. (jcvi.org)
Sequence alterations are abundant in cancer genomes but the proportion of fragments in cell-free DNA (cfDNA) that harbor tumor-specific (somatic) mutations is often low 8 , 9 , making it difficult to detect bona fide variants amidst background noise from sequence changes introduced in library construction and sequencing. (nature.com)
this facilitated the reconstruction of the sequence of the entire genome. (mpg.de)
Optical Genome Mapping is non-sequencing technology capable of analyzing large eukaryotic genomes and their structural features at a high resolution by evaluation of patterns generated by fluorophore tags labeled to specific sequence motifs within extremely long DNA molecules, of more than 300 kb (3, 4). (mdanderson.org)
Genome sequence information allows scientists to track new strains and antibiotic resistance trends. (cdc.gov)
Here we report the complete genome sequence of Streptococcus agalactiae strain 874391. (uea.ac.uk)
This serotype III isolate is a member of the hypervirulent sequence type 17 (ST-17) lineage that causes a disproportionate number of cases of invasive disease in humans and mammals. (uea.ac.uk)
mskilab-org/JaBbA: MIP based joint inference of copy number and rearrangement state in cancer whole genome sequence data. (github.com)
This thematic series of companion papers constitutes the initial exploration of the genome biology of the waterflea (Daphnia) building on the first complete crustacean genome sequence. (biomedcentral.com)
Sequence analysis of the Daphnia pulex genome holds some surprises that could not have been anticipated from what was learned so far from other arthropod genomes. (biomedcentral.com)
Simple sequence repeats (SSRs) are highly variable features of all genomes. (biomedcentral.com)
As a national user facility, the DOE JGI is also focused on developing tools that more cost-effectively enable the assembly and analysis of the sequence that it, as well as other genome centers, generates. (phys.org)
Sequence analysis revealed a typical coronavirus genome with the exception of a small region near the 3′-end of the viral RNA with homology to a bat reovirus. (virology.ws)
This sequence, called p10, was also detected in viral mRNAs from infected bats, further demonstrating the presence of the reovirus-like gene in the coronavirus genome. (virology.ws)
Title : Whole genome multilocus sequence typing as an epidemiologic tool for Yersinia pestis Personal Author(s) : Kingry, Luke C.;Rowe, Lori A.;Respicio-Kingry, Laurel B.;Beard, Charles B.;Schriefer, Martin E.;Petersen, Jeannine M. (cdc.gov)
The Complete Plastid Genome Sequence of Angiopteris evecta (G. Forst) " by J. M. Roper, S. K. Hansen et al. (usu.edu)
The Complete Plastid Genome Sequence of Angiopteris evecta (G. Forst) Hoffm. (usu.edu)
We used fluorescence activated cell sorting (FACS) to isolate organelles, rolling circle amplification (RCA) to amplify the plastid genome, followed by shotgun sequencing to 8X depth coverage, and then we assembled these reads to obtain the plastid genome sequence. (usu.edu)
Complete genome sequence of Pseudomonas aeruginosa K34-7, a carbapenem-resistant isolate of the high-risk sequence type 233. (pacb.com)
Here we report the complete genome sequence of an extensively drug-resistant, Verona integron-encoded metallo-ß-lactamase-expressing isolate belonging to the high-risk sequence type 233. (pacb.com)
We adapted several classically employed performance metrics specifically toward three different bioinformatics assays: resistance gene characterization (based on the ARG-ANNOT, ResFinder, CARD, and NDARO databases), several commonly employed typing schemas (including, among others, core genome multilocus sequence typing), and serogroup determination. (sciensano.be)
90% for the resistance gene characterization, sequence typing, and serogroup determination assays, respectively, for both validation datasets. (sciensano.be)
Current paradigm equates an organism's genome with its complete DNA sequence. (pitt.edu)
However, results from omics research show that the genome is more than the DNA sequence. (pitt.edu)
As consequence, the same organism can have multiple genomes regardless of the underlying DNA sequence. (pitt.edu)
Sequence assembly offers a powerful approach to identifying SVs, but is difficult to apply at scale genome-wide for SV detection due to its computational complexity and the difficulty of extracting SVs from assembly contigs. (broadinstitute.org)
The tobacco genome sequence and its comparison with those of tomato and potato. (coresta.org)
Of the 14 cases among persons with HIV in 2022 that were not related to the outbreak primarily among MSM, nine were caused by a single strain of N. meningitidis serogroup Y clonal complex CC174 sequence type ST-1466. (medscape.com)
Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence. (medscape.com)

The learning modules are self-paced and include the following topics: genomics primer, whole genome sequencing, genomic medicine in clinical practice, tumor board cases (case-based learning), pathology assessment of tumor tissue, and collaborative care. (bcgsc.ca)
Semi-automated genome annotation methods such as Segway take as input a set of genome-wide measurements such as of histone modification or DNA accessibility and output an annotation of genomic activity in the target cell type. (biomedcentral.com)
Sequencing-based genomics assays can measure many types of genomic biochemical activity, including transcription factor binding, chromatin accessibility, transcription, and histone modifications. (biomedcentral.com)
They output (1) a set of integer state labels , such that each state label putatively corresponds to a type of genomic activity (such as active promoter, active transcription or repressed region), and (2) a partition of the genome and annotation of each genomic segment with one state label. (biomedcentral.com)
Maintaining the genomic machinery is not a flawless process: DNA damage, genotoxic stresses, and defects in the repair pathways can all contribute to destabilizing the complex molecular networks keeping the genome intact. (biomedcentral.com)
This approach has been called " genomic epidemiology "-using pathogen genome sequences to detect emerging diseases, assess their potential virulence and resistance to antibiotics, and monitor their spread in populations. (cdc.gov)
What genomic studies are CDC public health scientists doing-and which genomes are they writing about? (cdc.gov)
Genomes are found at all three corners of the epidemiologic triangle: human or animal hosts are engaged in genomic contests with pathogens of all kinds, played out in an environment teeming with the genomes of other people, animals, plants, and microbes. (cdc.gov)

We evaluated SvABA's performance on the NA12878 human genome and in simulated and real cancer genomes. (broadinstitute.org)

In addition, genes associated with lupus nephritis in a prior genome-wide association study were not differentially methylated in this epigenome-wide study. (escholarship.org)
Genome annotation algorithms have had great success in interpreting genomics data and have been shown to recapitulate known functional elements including genes, promoters, and enhancers. (biomedcentral.com)
Forkhead box protein M1 (FOXM1) is a key transcription factor (TF) that regulates a common set of genes related to the cell cycle in various cell types. (mdpi.com)
We present a sensitive approach to predict genes expressed selectively in specific cell types, by searching publicly available expression data for genes with a similar expression profile to known cell-specific markers. (biomedcentral.com)
By focusing on identifying differentially expressed genes, it turns a more complex model-fitting problem into a classification problem [ 9 ], opening the door to algorithms that may be more sensitive, especially for rare and difficult-to-isolate cell types. (biomedcentral.com)
However, these algorithms all require very large training sets of both positive and negative control genes (≥10 of each) to define any cell type. (biomedcentral.com)
This requirement poses a severe limitation for most biological applications, as it is difficult to curate such a large list of established marker genes for even well-studied cell types and impossible for many others. (biomedcentral.com)
Here, we present CellMapper , an algorithm optimized for sensitive identification of cell type-enriched genes using as little as a single query gene. (biomedcentral.com)
We then apply our algorithm to a large compendium of 19,801 microarrays and identify genes specifically expressed in 30 diverse cell types of widespread importance in human biology, demonstrating that CellMapper can be readily used for cell types from many different tissues. (biomedcentral.com)
Finally, we explore a clinically relevant application to prioritize candidate genes in loci identified by genome-wide association studies (GWAS). (biomedcentral.com)
CellMapper takes as input (1) a large set of gene expression data and (2) a query gene (or genes) specifically expressed in the cell type of interest and then estimates the probability that every other gene in the dataset is co-expressed with the query gene (Fig. 1a ). (biomedcentral.com)
The human genome comprises around 20'000 "classical" protein-coding genes, but they are dwarfed by 100'000 lncRNAs. (scitechdaily.com)
The work once again highlights doubts about the number of real genes present in human cells 15 years after the sequencing the human genome. (uncommondescent.com)

RGD still stores some data types which are not being updated on a regular basis, including genetic/RH maps and sequences. (mcw.edu)
Most large genomes contain thousands of large structural variants (SVs), repetitive regions composed of identical or similar stretches of sequences, mobile elements such as transposons, large insertions, deletions, translocations, and inversions up to millions of bases, with even partial or entire chromosomes altered. (mdanderson.org)
Through start-up support from the Advanced Molecular Detection (AMD) program, StrepLab now sequences whole genomes of group A strep and other bacteria. (cdc.gov)
StrepLab scientists realized they could also use genome sequences to find connections between invasive group A strep infections. (cdc.gov)
Running the genome sequences through the cluster detection tool at CDC showed the samples were near identical. (cdc.gov)
Broad Genomics Platform sequences a whole human genome every four minutes. (broadinstitute.org)
This list of sequenced archaeal genomes contains all the archaea known to have publicly available complete genome sequences that have been assembled, annotated and deposited in public databases. (wikipedia.org)

Here, we considered whether identifying somatic mutations genome-wide could enable the detection of an increased number of circulating tumor DNA (ctDNA) alterations and increase the detection of early stage disease. (nature.com)
Tumor initiation, progression, and evolution are often rooted in the malfunctioning of the checkpoints securing genome integrity. (biomedcentral.com)
Genome instability is a hallmark of cancer, and gives tumor cells many selective advantages, accelerating the evolutionary processes which allow cancers to thrive. (biomedcentral.com)

The ability to perform large-scale association analysis, including genome-wide association studies (GWAS) in many thousands of samples from different populations, and subsequently, the shift to form large international collaborations to perform meta-analyses across many studies has taken the number of independent loci showing genome-wide significant associations with T2D to 44. (nih.gov)

Silver Age of GOLD Introduces New Features The Genomes OnLine Database makes curated microbiome metadata that follows community standards freely available and enables large-scale comparative genomics analysis initiatives. (doe.gov)
The Genetics/Genomics Competency Center (G2C2) is a project funded and maintained by the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH) . (bcgsc.ca)
The website offers online courses in genomics, bioinformatics, whole genome sequencing and tumour assessment along with education and training resources for clinicians and practitioners. (bcgsc.ca)
In this paper, we use the term "cell type" to refer to any such cellular condition that admits genomics assays. (biomedcentral.com)
A class of methods known as semi-automated genome annotation (SAGA) algorithms are widely used to perform such integrative modeling of diverse genomics data sets. (biomedcentral.com)
These algorithms take as input a collection of genomics data sets from a particular cell type. (biomedcentral.com)
The wide availability of genomics data sets necessitates the development of SAGA strategies that can be applied to many cell types. (biomedcentral.com)
Using this approach, we were able to annotate 164 human cell types using a total of 1615 genomics data sets. (biomedcentral.com)
Researchers from the University of Bern and the Insel Hospital identified new targets for drug development for this cancer type in a recent study published in the journal Cell Genomics . (scitechdaily.com)
In November 2022, Broad's Genomics Platform sequenced its 500,000th whole human genome, a mere four years after sequencing its 100,000th. (broadinstitute.org)
We anticipate that the draft genomes will strengthen the use of N. tabacum as a versatile model organism for functional genomics and biotechnology applications. (coresta.org)

Our analysis shows that large populations can be classified into a small number of groups called response-types, specific to a given viral strain. (nih.gov)
To gain in-depth insights into the viral population and to perform detailed characterization of viral genomes, we used a new approach combining long-range PCR with next-generation and third-generation sequencing which allowed near full-length sequencing of HEV-3 genomes. (nature.com)
These results indicate that the p10 protein is produced from the viral genome and that the protein is functional. (virology.ws)
Adenovirus DNA : the viral genome and its expression / edited by Walter Doerfler. (who.int)

Long terminal repeat (LTR) retroelements represent a successful group of transposable elements (TEs) that have played an important role in shaping the structure of many eukaryotic genomes. (biomedcentral.com)

This document specifies the minimum requirements for generating and analysing whole genome sequencing (WGS) data of bacteria obtained from the food chain. (iso.org)
We analyzed whole-genome sequencing data from 2,511 individuals in the Pan-Cancer Analysis of Whole Genomes (PCAWG) study as well as 489 individuals from four prospective cohorts and found distinct regional mutation type-specific frequencies in tissue and cell-free DNA from patients with cancer that were associated with replication timing and other chromatin features. (nature.com)
Furthermore, we developed a targeted ultra-deep sequencing approach to assess the dynamics of clinically relevant mutations in the RdRp-region and to detect insertions in the HVR-domain in the HEV genomes. (nature.com)
Therefore, to capture the heterogeneity of the HEV quasispecies, including recombination events and SNP that occur with very low frequencies, we developed new sequencing approaches for HEV genotype 3 based on the amplification of the near full-length genome of HEV by long-range PCR (lrPCR) followed by subsequent next-generation sequencing (NGS) and third-generation sequencing. (nature.com)
Based on the genome sequencing results, an analysis of structural proteins and prediction of putative microRNAs of Hz-2V was performed. (umass.edu)
Before genome sequencing, scientists only knew the type of group A strep strains, not if they were identical or near identical. (cdc.gov)
JaBbA builds a genome graph based on junctions and read depth from whole genome sequencing, inferring optimal copy numbers for both vertices (DNA segments) and edges (bonds between segments). (github.com)
The U.S. Department of Energy Joint Genome Institute (DOE JGI) is among the world leaders in sequencing the genomes of microbes, focusing on their potential applications in the fields of bioenergy and environment. (phys.org)
Despite tremendous advances in cost reduction and throughput of DNA sequencing, significant challenges remain in the process of efficiently reconstructing genomes. (phys.org)
The technique, known as HGAP (Hierarchical Genome Assembly Process), uses PacBio's single molecule, real-time DNA sequencing platform, which generates reads that can be up to tens of thousands of nucleotides long, even longer than those provided by the workhorse technology of the Human Genome Project era, the Sanger sequencing technology, which produced reads of about 700 nucleotides. (phys.org)
The DOE JGI's sequencing efforts account for more than 20% of the more than 20,000 worldwide genome projects (microbes, plants, fungi, algae, and communities of microbes) completed or currently in the queue, and most of those are focused on the biology of environmental, energy, and carbon processing. (phys.org)
See how the University of Washington used HiFi sequencing to uncover a key finding about ALS and the human genome. (pacb.com)
Our revolutionary sequencing technologies combine the completeness of long reads with the accuracy of short reads to provide the most comprehensive view of genomes, transcriptomes, and epigenomes. (pacb.com)
Validation of a Bioinformatics Workflow for Routine Analysis of Whole-Genome Sequencing Data and Related Challenges for Pathogen Typing in a European National Reference Center: as a Proof-of-Concept. (sciensano.be)
Despite being a well-established research method, the use of whole-genome sequencing ( WGS ) for routine molecular typing and pathogen characterization remains a substantial challenge due to the required bioinformatics resources and/or expertise. (sciensano.be)
We describe SvABA, an efficient and accurate method for detecting SVs from short-read sequencing data using genome-wide local assembly with low memory and computing requirements. (broadinstitute.org)
Isolates are characterized using whole genome sequencing to determine serogroup and molecular typing information. (medscape.com)
The Human Genome Project (HGP) started in the United States of America aiming at sequencing and mapping the human genetic code. (bvsalud.org)
In 2003, the sequencing of almost all human genome (HG) was announced. (bvsalud.org)

We describe extensive use of histidine kinase-based two-component systems and tyrosine kinase signaling, the presence of bacterial and plant type photoreceptors (phytochromes, cryptochrome, and phototropin) and of plant-type pentatricopeptide repeat proteins, as well as metabolic pathways, and a cell cycle control system typically found in more complex eukaryotes. (duke.edu)
1 Bacterial samples collected over the course of an outbreak might only be "near" identical because bacteria pick up genome mutations over time. (cdc.gov)

The phenotypic datasets were used for 55K single-nucleotide polymorphism (SNP) array-based genome-wide association studies to identify effective resistance loci. (unboundmedicine.com)

We present a validation strategy focusing specifically on the exhaustive characterization of the bioinformatics analysis of a WGS workflow designed to replace conventionally employed molecular typing methods for microbial isolates in a representative small-scale laboratory, using the pathogen as a proof-of-concept. (sciensano.be)
The focus is on pathogen genomes, applying advances in molecular and bioinformatics methods first developed for human genome research. (cdc.gov)

RGD's Genome Information pages give consolidated information about the recent genome assemblies for all of the species available at RGD. (mcw.edu)
Here we present the analysis of the genome of this enigmatic and important model organism and compare it with closely related species. (duke.edu)
Bouquet of species dahlias grown from seeds collected in Mexico as part of the Genome Project. (dahlia.org)
Currently in this list there are 39 genomes belonging to Crenarchaeota species, 105 belonging to the Euryarchaeota, 1 genome belonging to Korarchaeota and to the Nanoarchaeota, 3 belonging to the Thaumarchaeota and 1 genome belonging to an unclassified Archaea, totalling 150 Archaeal genomes. (wikipedia.org)
These genomes show both the low divergence of tobacco from its ancestor genomes and display microsynteny with other Solanaceae species. (coresta.org)
and 6 (3%) concerned genomes of other animal species (Figure). (cdc.gov)

Genome Insider: Methane Makers in Yosemite's Lakes Meet researchers who sampled the microbial communities living in the mountaintop lakes of the Sierra Nevada mountains to see how climate change affects freshwater ecosystems, and how those ecosystems work. (doe.gov)
We enjoyed a very productive collaboration with JGI on this project and benefitted tremendously from the expertise of JGI's scientists in both the fields of microbiology and microbial genome assembly and annotation," said Jonas Korlach, Chief Scientific Officer at Pacific Biosciences. (phys.org)
We look forward to seeing what scientific advances will be enabled by this method as JGI's User Community assesses JGI's capabilities to assemble their microbial genomes using this new approach. (phys.org)

It is a hepatotropic, approximately 7.2 kb single-stranded positive-sense RNA virus whose genome contains three open reading frames (ORF1, ORF2, and ORF3), 5′ and 3′ untranslated regions (UTRs), and a poly(A) tract at the 3′ end. (nature.com)
Methanococcus jannaschii was the first archaeon whose genome was sequenced, in 1996. (wikipedia.org)

Genome editing is the targeted alteration of a few DNA letters within the existing genetic blueprint of an organism. (europa.eu)

Detects all types of Structural Variants (SVs) down to 5% Variant Allele Fraction for mosaic samples or heterogeneous cancer samples. (mdanderson.org)
SvABA: genome-wide detection of structural variants and indels by local assembly. (broadinstitute.org)

This type of genetic disorder is caused by mutations in the non-nuclear DNA of mitochondria. (medicinenet.com)

To improve our understanding of the aetiological factors and molecular processes driving the occurrence of GDM, including the extent to which these overlap with T2D pathophysiology, the GENetics of Diabetes In Pregnancy (GenDIP) Consortium assembled genome-wide association studies (GWAS) of diverse ancestry in a total of 5485 women with GDM and 347 856 without GDM. (lu.se)

Whole genome comparison of Aspergillus flavus L-morphotype strain NRRL 3357 (type) and S-morphotype strain AF70. (jcvi.org)

Annotation was added by the NCBI Prokaryotic Genome Annotation Pipeline (released 2013). (nih.gov)

Greater understanding of the biology of cancer has led, over the years, to a deeper knowledge of the mechanisms safeguarding genome stability and the many ways in which these can fail. (biomedcentral.com)

To address these challenges, we developed an approach, called GEnome-wide Mutational Incidence for Non-Invasive detection of cancer (GEMINI), that can identify a much larger number of somatic alterations in cfDNA (Fig. 1 ). (nature.com)

Two copies of each gene are therefore present in our genome and, as a general rule, both are active. (mpg.de)
The human brain provides a clear example: many brain cell types display abnormal gene expression patterns when grown in culture [ 2 ] and must be acutely isolated from intact brain tissue to insure physiological relevance. (biomedcentral.com)
A novel coronavirus isolated from bats in China is unusual because the genome contains a gene from a virus in a completely different family, the Reoviridae (link to paper) . (virology.ws)
Our gene.iobio tool performs real-time analysis of a patient's genome in an easy-to-use web-based application, ensuring all team members can efficiently contribute their expertise in the diagnostic process. (sbir.gov)

Eleven markers located on chromosomes 1A, 2B, 5A, 5D, 7B, and 7D by the genome-wide association studies analysis showed significant associations with at least two resistance-associated traits in two of the environments. (unboundmedicine.com)
A multi-tissue type genome-scale metabolic network for analysis of whole-body systems physiology. (ucsd.edu)
Pathway analysis indicated that biological processes involving type 1 interferon responses and the development of the immune system were associated with nephritis in patients with SLE. (escholarship.org)

But with two projects, communities are forming to generate high quality genomes to benefit researchers. (doe.gov)
However, that could soon change: researchers in the group of geneticist Korbinian Schneeberger were able to generate the first full assembly of a potato genome. (mpg.de)
DOE JGI researchers are part of a team that has developed what is described as "a fully automated process from DNA sample preparation to the determination of the finished genome. (phys.org)
Working with Addgene, Broad Institute has shared CRISPR genome-editing reagents with researchers at more than 3,200 institutions in 76 countries. (broadinstitute.org)

The influence of genetic variation on methylation status was investigated using data from a genome-wide association study of SLE. (escholarship.org)
An extensive literature documenting physiological and ecological diversity make Daphnia an ideal model to study the genetic architecture of phenotypic variation in natural populations and the evolution of genome structure/function relationships in aquatic environments. (biomedcentral.com)

Maximum-likelihood phylogeny of 198 sequenced Salmonella enterica serovar Typhimurium definitive type 160 isolates from Australia and New Zealand and reference isolates, inferred from 2,203 core single-nucleotide polymorphisms, Australia and New Zealand. (cdc.gov)

This RFA will be administered by NHGRI ( http://www.genome.gov ) on behalf of the NIH ( http://www.nih.gov ). (nih.gov)

More than 20 years after the first release of the human genome, scientists at the Ludwig-Maximilians-Universität München and the Max Planck Institute for Plant Breeding Research in Cologne, have for the first time decoded the highly complex genome of the potato. (mpg.de)
Scientists have done this before for viruses, but viruses typically have much smaller genomes than bacteria. (cdc.gov)
The benefit to the dahlia community of having the dahlia genome sequenced is that a genome road map will ensure future scientists study the dahlia and their work will produce more precise and faster results. (dahlia.org)
At The Conversation on junk DNA: Bewilderingly, scientists found that the non-coding genome was actually responsible for the majority of information that impacted disease development in humans. (uncommondescent.com)
Until recently, only the simplest genomes were available to public health scientists and even those were generally known only by their fingerprints. (cdc.gov)

We analyzed a core validation dataset of 67 well-characterized samples typed by means of classical genotypic and/or phenotypic methods that were sequenced in-house, allowing to evaluate repeatability, reproducibility, accuracy, precision, sensitivity, and specificity of the different bioinformatics assays. (sciensano.be)

Genome Insider: A Shrubbier Version of Rubber Hear from the consortium working on understanding the guayule plant's genome, which could lead to an improved natural rubber plant. (doe.gov)
The Wellcome Trust Case Control Consortium (WTCCC) primary genome -wide association (GWA) scan on seven diseases , including the multifactorial autoimmune disease type 1 diabetes (T1D), shows associations at P chromosome regions 12q24, 12q13, 16p13, 18p11, 12p13 and 4q27. (bvsalud.org)

Thus, this molecular approach will add incrementally to our current knowledge of the HEV-genome organization and pathogenesis in chronic hepatitis E. (nature.com)

What are the four types of genetic disorders (inherited)? (medicinenet.com)
In recent years, the search for genetic determinants of type 2 diabetes (T2D) has changed dramatically. (nih.gov)
The genetic changes that are introduced by means of the SDN1 and SDN2 types of CRISPR-Cas technology do not differ from changes that can occur naturally or result from conventional breeding. (europa.eu)

What is the human genome? (medicinenet.com)
The human genome is the entire 'treasury of human inheritance. (medicinenet.com)
Here we study the effect of human leukocyte antigen (HLA) genotype heterogeneity on possible cytotoxic T-lymphocyte (CTL) response to 186 influenza H1N1 genomes. (nih.gov)
what's more, multiple copies of each chromosome also make the reconstruction of the potato genome a far greater technical challenge than was the case for the human genome. (mpg.de)
Here we present annotations of 164 human cell types using 1615 data sets. (biomedcentral.com)
We further combined all annotations into a single, cell type-agnostic encyclopedia that catalogs all human regulatory elements. (biomedcentral.com)
Furthermore, CellMapper makes accurate predictions for human brain cell types that have never been isolated, and can be rapidly applied to diverse cell types from many tissues. (biomedcentral.com)
As a result, expression data are only available for a small fraction of the ~150 cell types [ 7 ] of the human central nervous system and this problem is similar for many other tissues. (biomedcentral.com)
We show that CellMapper can make accurate predictions for four human brain cell types that have never been isolated and cannot be addressed by any other computational method. (biomedcentral.com)
The purpose of this funding opportunity is to provide support for investigative groups to conduct genome-wide association (GWA) genotyping and/or replication studies using data and samples from human subjects on whom information is available for conditions/traits of public health importance and relevant environmental exposures. (nih.gov)
The human genome at 20. (uncommondescent.com)
Introduction: The Human Genome Project (HGP) has allowed for advances in diagnosis and prevention of diseases. (bvsalud.org)

Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. (bvsalud.org)

Based on these findings, the present work advances the hypothesis that the genome is an emergent entity resulting from epigenomics mechanisms. (pitt.edu)

In 2016 Dr. Virginia Walbot of Stanford University and Kristine Albrecht of ADS started the ADS Genome Project based on Dr. Walbot's inspiration. (dahlia.org)

The genome is littered with simple and complex repeats and the coding regions are frequently interrupted by introns with a mean size of 100 bases. (duke.edu)
The circular genome map has 153,901 bp, containing inverted repeats of 21,053 bp each, a large single-copy region of 89,709 bp, and a small single-copy region of 22,086 bp. (usu.edu)

Second, this annotation strategy is very sensitive to artifactual differences between data from different cell types, resulting in bias for or against each label. (biomedcentral.com)
Hence, in principle, these methods could annotate a cell type without any data (or very little data) in that cell type. (biomedcentral.com)
This strategy allows us to use all available data in every cell type and removes the potential for issues resulting from experimental artifacts. (biomedcentral.com)
In contrast, a concatenated approach applied to these data can use at most 570 data sets, which is achieved by annotating 114 cell types with a panel of five assay types each. (biomedcentral.com)
All available data for a given cell type is input to Segway, which produces an annotation with integer state labels. (biomedcentral.com)

The team will now seek to extend the utility of this new assembly method beyond microbes to the genomes of more complex organisms. (phys.org)

However, there are steep technical challenges to obtaining pure populations of many cell types for expression profiling [ 1 ]. (biomedcentral.com)

An extremely complex form of SVs called chromothripsis, in which dozens to hundreds of breakpoints on one or more chromosomes are involved, was originally reported in different types of cancers as well as in germlines genomes causing developmental and neuronal disorders. (mdanderson.org)
Regarding other cancers, Roberta Esposito, co-first author and postdoc at the University of Bern: "Like a telescope that can be quite easily repositioned to study a different part of space, our approach should be easily adaptable to reveal new potential treatment types for other cancer types. (scitechdaily.com)

These algorithms take advantage of the fact that the relative proportion of cell types varies from sample to sample, making it possible to statistically deconvolve expression changes in the underlying cell types. (biomedcentral.com)

The methylation status of 428 229 CpG sites across the genome was characterised for peripheral blood cells from 322 women of European descent with SLE, 80 of whom had lupus nephritis, using the Illumina HumanMethylation450 BeadChip. (escholarship.org)

However, genome assembly, the equivalent of trying to put together a multi-million piece jigsaw puzzle without knowing what the picture on the cover of the box is, remains challenging due to the very large number of very small pieces, which must be assembled using current approaches. (phys.org)
As reported May 5 online in the journal Nature Methods , a collaboration between the DOE JGI, Pacific Biosciences (PacBio) and the University of Washington has resulted in an improved workflow for genome assembly that the team describes as "a fully automated process from DNA sample preparation to the determination of the finished genome. (phys.org)
Fortunately there is software called High-C to aid genome assembly. (dahlia.org)
When complete, this will be the first dahlia genome assembly. (dahlia.org)

The mapping can vary across cellular types and developmental times. (pitt.edu)

Early detection of cancer has demonstrated clinical benefits in multiple cancer types, but the implementation of screening approaches remains challenging 2 . (nature.com)

Anatomy13

Organisms32

Diseases9

Chemicals and Drugs36

Analytical, Diagnostic and Therapeutic Techniques and Equipment29

Phenomena and Processes137

Disciplines and Occupations5

Technology, Industry, Agriculture3

Information Science14

Health Care5

Geographicals5

Sequence33

Genomic8

Cancer genomes1

Genes13

Sequences7

Tumor3

Including genome-wide as1

Genomics11

Viral4

Eukaryotic genomes1

Sequencing19

Bacterial2

Loci1

Pathogen2

Species6

Microbial3

Whose genome2

Organism1

Variants2

Mutations1

GWAS1

Strain1

Annotation Pipeline1

Biology1

Somatic1

Gene4

Analysis3

Researchers4

Variation2

Isolates1

NHGRI1

Scientists5

Bioinformatics1

Consortium2

Molecular1

Genetic3

Human12

Analyses1

Advances1

20161

Repeats2

Data5

Microbes1

Populations1

Cancers2

Proportion1

Methylation1

Assembly4

Developmental1

Approaches1