Sentences with phrase «human genome sequence variation»

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By increasing the speed and accuracy for NGS data analysis like whole genome sequencing (WGS), our computing platform makes it easier to discover links between DNA sequence variations and human disease.»

They also compared the human genomes with recently sequenced genomes of Neanderthals and Denisovans and found similar genetic variation, which indicates that the facial variation in modern humans must have originated prior to the split between these different lineages.

With the completion of the first phase of the Human Genome Project in 2000, and the advent of sequencing technologies that can detect gene variations such as single nucleotide polymorphisms (SNPs), for the first time scientists have the tools in hand to find the key immune genes and genetic networks that play roles in vaccine response.

UCSF [University of California, San Francisco]'s Institute for Human Genetics is participating, too, looking at genome - sequence variations.

The work on gorilla and other human genomes clearly demonstrates that large swathes of genetic variation can't be understood with the short sequence - read approaches.

Using a specific work flow, they assessed both the coding and noncoding regions of the human genome, including the evaluation of highly polymorphic SNPs, structural and copy number variations, as well as 69 control genomes sequenced by the same procedures.

By analyzing these two exomes together with the genome sequence of a Neandertal from Siberia we show that the genetic diversity of Neandertals was lower than that of present - day humans and that the pattern of coding variation suggests that Neandertal populations were small and isolated from one another.

Montgomery, S.B., Lappalainen, T., Gutierrez - Arcelus, M. & Dermitzakis, E.T. Rare and common regulatory variation in population - scale sequenced human genomes.

In a paper published in Nature in September 2013, we describe results of the largest study to date integrating RNA and genome sequencing data from multiple human populations, and provide a comprehensive map of how genetic variation affects the transcriptome.

The quality and scale of deCODE's in - house, CLIA - registered genotyping laboratory underpins deCODE's global leadership in the discovery of variations in the sequence of the human genome conferring risk of common diseases.

Furthermore, recombination between duplicated sequences introduces structural variation into the human genome and facilitates the formation of clustered gene families.

In this study we have integrated genome and transcriptome sequencing data to understand the landscape of functional variation in human populations.

For the Standard Sequencing Service, all of these variation types are identified in comparison to the human genome reference.

As our understanding of the noncoding portion of the genome improves, it will become even more apparent that whole - genome sequencing (and not exome sequencing) will be required to characterize the full extent of phenotypically - relevant genetic variation in humans.

Reykjavik, ICELAND, May 17, 2009 — In a paper published today in the online edition of Nature Genetics, scientists from deCODE genetics (Nasdaq: DCGN) and academic colleagues from Iceland, Denmark and the Netherlands present the discovery of single letter variations in the sequence of the human genome (SNPs) that influence the age of girls at menarche, the first menstrual period.

Most of that is by design: the 1,000 Genomes Project generated and made available sequence data for more than 1,000 individuals in an effort to further characterize human genetic variation.

The data include sequence reads, their mappings to a reference human genome, and variations detected against the reference human genome.

Reykjavik, ICELAND, January 10, 2010 — Scientists at deCODE genetics today report the discovery of seven novel and common single - letter variations in the sequence of the human genome (SNPs) that are involved in modulating the electrical impulses that govern the...

Analyzes whole genome and detailed clinical data from nearly 300,000 Icelanders Finds several novel variations in the sequence of the human genome modulating cholesterol levels Five variants are also causally linked to increased risk of coronary artery disease Shows...

His laboratory has also discovered and characterized a significant number of novel genes contributing to autism and human neurodevelopmental disorders, and has recently applied whole - genome sequencing technologies and large - scale genomics datasets to prenatal detection and interpretation of structural variation in the genome.

This section invites manuscripts describing (a) Linkage, association, substitution or positional mapping and epigenetic studies in any species; (b) Validation studies of candidate genes using genetically - engineered mutant model organisms; (c) Studies focused on epistatis and gene - environment interactions; (d) Analysis of the functional implications of genomic sequence variation and aim to attach physiological or pharmacogenomic relevance to alterations in genes or proteins; (e) Studies of DNA copy number variants, non-coding RNA, genome deletions, insertions, duplications and other single nucleotide polymorphisms and their relevance to physiology or pharmacology in humans or model organisms, in vitro or in vivo; and (f) Theoretical approaches to analysis of sequence variation.

His research group provided the first genome - wide view of segmental duplications within human and other primate genomes and he is a leader in an effort to identify and sequence normal and disease - causing structural variation in the human genome.

His group developed sample and data tracking systems, automated sequence - assembly tools for the Human Genome Project and sequence variation analysis methods for the SNP Consortium Project and the International Haplotype Map Project.

Reykjavik, ICELAND, October 4, 2009 — Scientists from deCODE genetics (Nasdaq: DCGN) and academic colleagues from seven countries today report the discovery of several novel, common single - letter variations in the sequence of the human genome (SNPs) contributing to...

The Broad Institute and its collaborating institutions have received two major grants from the National Human Genome Research Institute (NHGRI) that will support the use of genome sequencing and analysis to identify the genes and genetic variation that underlie both rare and common disGenome Research Institute (NHGRI) that will support the use of genome sequencing and analysis to identify the genes and genetic variation that underlie both rare and common disgenome sequencing and analysis to identify the genes and genetic variation that underlie both rare and common diseases.

As the target sequences for transcription factors are short, and transcription factors are tolerant of considerable variation in the sequences to which they bind, it is extremely difficult to distinguish functional binding sites in the vastness of the human genome.

Their main interests are genomic organization, structural variation of the human genome as related to disease, computational genomics, small RNA biology, transcriptional modeling, and sequencing technology.

Human Genome Variation Society; maintains lists of and links to locus - specific mutation databases; guidelines for description of sequence variants.

David Reich and colleagues report genome sequences of 300 people from 142 different populations usually under - represented in large - scale studies to describe a range of human variation.

These data provide a study design that can be used to determine how variation in the sequence of the human genome gives rise to human diversity.