Sentences with phrase «variants in the human genome»

Using several techniques to gauge the effects of these mutations, which are the most common type of variant in the human genome, Akey estimated that more than 80 percent are probably harmful to us.

In this study, published in the Journal of the American College of Cardiology, researchers also identified six further variants in the human genome that occur more frequently in a coronary artery disease (CAD).

Recent reports have found that conventional cell isolation and genome amplification strategies, even using MDA, can yield as many as a million false positive single - nucleotide variants in a human genome, swamping the true positives (1).

Reykjavik, ICELAND, September 14, 2008 — Scientists at deCODE genetics (Nasdaq: DCGN) and colleagues at Radboud University Medical Center in the Netherlands today report the discovery of two common single - letter variants in the human genome (SNPs) that confer increased risk of urinary bladder cancer.

By studying more than 300,000 SNPs (single - letter variants in the human genome) across...

Reykjavik, ICELAND, 9 October 2011 — Scientists at deCODE Genetics and academic collaborators from Iceland, Norway, Denmark, the Netherlands and the USA today report the discovery of low frequency variants in the human genome that associate with risk of gout, a common...

Scientists at deCODE Genetics and academic collaborators from Iceland, The Netherlands, Spain and Finland today report the discovery of variants in the human genome that associate with increased risk of invasive ovarian cancer, one of the deadliest forms of cancer in...

Reykjavik, ICELAND, 9 October 2011 — Scientists at deCODE Genetics and academic collaborators from Iceland, Norway, Denmark, the Netherlands and the USA today report the discovery of low frequency variants in the human genome that associate with risk of gout, a common inflammatory arthritis, and serum uric acid levels.

For instance, a researcher interested in cardiovascular disease could access GTEx data to view all the genetic variants in the human genome that affect gene expression in the heart.

Not exact matches

«But in this case, when this virus infects cells, the virus makes its own transcription factors, and those sit on the human genome at lupus risk variants (and at the variants for other diseases) and that's what we suspect is increasing risk for the disease.»

We want to understand the basic mechanism underlying these multiple new copy number variant mutations in the human genome.»

Incompatible software Manica says that the error occurred when his team compared genetic variants in the ancient Ethiopian man with those in the reference human genome.

«Gene variants modifying Huntington's symptom onset may lead to new therapeutic strategies: Genome - wide association analysis identifies sites associated with earlier - or later - than - expected symptom appearance in human patients.»

When Pääbo's team looked at patterns of nuclear genome variation in present - day humans, it identified 12 genome regions where non-Africans exhibited variants that were not seen in Africans and that were thus candidates for being derived from the Neandertals, who lived not in Africa but Eurasia.

They then examined genetic variants throughout the human genome for their effects on gene expression in these two representative populations of immune cells.

Co-author Andrea Manica, a population geneticist at the University of Cambridge in the United Kingdom, has posted a note online explaining that incompatibility between two software packages used to compare Mota's genome with the reference human genome led the software program to simply drop certain DNA variants, with the result that all living Africans seemed to have inherited more «Eurasian» DNA than they actually did.

Once transferred into the human genome, however, these alleles became subject to natural selection, which was more effective in the larger human populations and has removed these gene variants over time.

Neanderthal genetic material is found in only small amounts in the genomes of modern humans because, after interbreeding, natural selection removed large numbers of weakly deleterious Neanderthal gene variants, according to a study by Ivan Juric and colleagues at the University of California, Davis, published November 8th, 2016 in PLOS Genetics.

«One big problem we have is that tens of thousands of human genome variants and phenotypes are spread throughout a number of databases, each one with their own organization and nomenclature that aren't easily accessible,» said Julia Wang, an M.D. / Ph.D. candidate in the Medical Scientist Training Program at Baylor and a McNair Student Scholar in the Bellen lab, as well as first author on the publication.

But they found the same gene variant in the genome of a Denisovan, an extinct species of human known only from a cave in the Altai mountains in east - central Asia (Nature, DOI: 10.1038 / nature13408).

In a previous study of Pygmy genomes, Tishkoff and colleagues had found variants in genes involving human growth factor, which the pituitary gland produces to regulate heighIn a previous study of Pygmy genomes, Tishkoff and colleagues had found variants in genes involving human growth factor, which the pituitary gland produces to regulate heighin genes involving human growth factor, which the pituitary gland produces to regulate height.

More recently, scientists have identified parts of the human genome carrying Neandertal genetic variants, but — in part because Neandertal - derived DNA is so hard to identify and also because of the expense of performing tests for its influence on individuals — scientists still don't fully understand how Neandertal - derived variants influence modern human traits.

Now the biggest - ever genetic study of mental illness has found 128 gene variants associated with schizophrenia, in 108 distinct locations in the human genome.

Reykjavik, ICELAND, 25 September 2011 — Scientists at deCODE Genetics and academic collaborators from Iceland, The Netherlands, Spain, Denmark, Germany, Sweden, the USA, the UK and Romania today report the discovery of a variant in the sequence of the human genome associated with risk of developing basal cell carcinoma of the skin (BCC), as well as prostate cancer and glioma, the most serious form of brain cancer.

In human disease, researchers need new and better ways to find structural variants and profile 3D chromatin features across the whole genome.

Reykjavik, ICELAND, December 16, 2009 — Scientists at deCODE genetics, Inc. (Nasdaq: DCGN) publish in the journal Nature the discovery of a version of a common single - letter variant in the sequence of the human genome (SNP) with a major impact on susceptibility to type 2 diabetes (T2D).

Furthermore, new genome - editing technologies such as CRISPR / Cas9 now enable the efficient derivation of precision disease models incorporating patient - specific genetic variants as a means of recapitulating essential aspects of human disease in mouse and other model organisms.

Reykjavik, ICELAND, 6 March 2011 — Scientists at deCODE genetics and academic colleagues from Iceland, The Netherlands, Denmark, USA and Illumina, Inc., today report the discovery of single - letter variants (SNPs) in the sequence of the human genome associated with high risk of sick sinus syndrome (SSS).

In addition to our computational work, we run a small wetlab where we use CRISPR - Cas genome editing in human cell lines to obtain a deeper understanding of how genetic variants affect the celIn addition to our computational work, we run a small wetlab where we use CRISPR - Cas genome editing in human cell lines to obtain a deeper understanding of how genetic variants affect the celin human cell lines to obtain a deeper understanding of how genetic variants affect the cell.

Roughly speaking, that's one variant for every 20.5 base pairs in the human genome.

While these variants are all determined in comparison to the human genome reference, genomes submitted for the Cancer Sequencing Service are additionally analyzed for somatic variants called in comparison to the baseline genome within the submitted pair or trio.

By scanning the entire human genome in search of genetic variations that may signal recent evolution, University of Chicago researchers found more than 700 genetic variants that may be targets of recent natural positive selection during the past 10,000 years of human evolution.

We have found that some of these variants are located in genome regions conserved down to the zebrafish, and surrounded by the same neighborhood of genes as in the human genome.

Potential projects include identifying common pathways that modify retinal degenerative disease from a large collection of actively maintained mouse models; determining molecular networks implicated in pathological disruption of the retinal pigment epithelium; identifying molecular pathways that regulate postnatal ocular growth; and using mouse models to assess the pathogenic role of gene variants that increase the risk of age - related macular degeneration as identified by human genome - wide association studies.

Reykjavik, ICELAND, January 31, 2008 — Scientists from deCODE genetics (Nasdaq: DCGN) today report the discovery of two common, single - letter variants in the sequence of the human genome (SNPs) that regulate one of the principle motors of evolution.

It's no secret that while genome - wide association studies (GWAS) have implicated thousands of genetic loci in human phenotypes, the variants uncovered collectively explain only a fraction of the observed variance between individuals.

The Ion Proton ™ System is the first benchtop non-imaging semiconductor sequencing system capable of human - targeted genome, exome, or transcriptome sequencing in a few hours — with DNA - to - variants called in a single day.

Using autopsies from 909 individuals participating in studies of aging based at Rush University, the team of investigators assessed the human genome for evidence that a genetic variant could affect NFT.

Reykjavik, Iceland, July 18, 2007 - Scientists at deCODE genetics (Nasdaq: DCGN) in collaboration with colleagues from Emory University today report the discovery of the first variant in the sequence of the human genome ever linked to risk of Restless Legs Syndrome...

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...

New risk variants published today will also be folded into deCODEme ™ Reykjavik, ICELAND, February 10, 2008 - deCODE genetics (Nasdaq: DCGN) today announced the launch of deCODE PrCa ™, a reference laboratory test for common, single - letter variations in the human 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.

Her recent work (with co-authors) describing a novel variant that causes blond hair in the Solomon Islands, Melanesia, (and published in Science journal) was featured in the New York Times and the Smithsonian NHGRI Human Genome exhibit.

Reykjavik, ICELAND, 6 March 2011 — Scientists at deCODE genetics and academic colleagues from Iceland, The Netherlands, Denmark, USA and Illumina, Inc., today report the discovery of single - letter variants (SNPs) in the sequence of the human genome associated with...

The Comparative Mouse Genomics Centers Consortium (CMGCC) was initiated by the National Institute of Environmental Health Sciences» (NIEHS) Environmental Genome Project to develop transgenic and knockout mouse models based on human DNA sequence variants in environmentally responsive genes.

Computational methods for identifying new risk loci, training risk prediction models, and fine - mapping causal variants from summary statistics of genome - wide association studies are playing an increasingly important role in the human genetics community.

In addition, recent genome - wide association studies have identified several hundred common genetic variants — inherited changes in the DNA sequence of the human genome — that play a role in an individual's susceptibility to complex human illnesses such as heart disease, mental illnesses, cancer and diabeteIn addition, recent genome - wide association studies have identified several hundred common genetic variants — inherited changes in the DNA sequence of the human genome — that play a role in an individual's susceptibility to complex human illnesses such as heart disease, mental illnesses, cancer and diabetein the DNA sequence of the human genome — that play a role in an individual's susceptibility to complex human illnesses such as heart disease, mental illnesses, cancer and diabetein an individual's susceptibility to complex human illnesses such as heart disease, mental illnesses, cancer and diabetes.

The proportion of each LNCaP − / 22Rv1 - associated SNP variant in the general human population, with the exception of SNPs 2617T, 10562G, 13227T, 2617T, 5985A, and 9247A for which information was not available, was estimated by searching mtDB, a population - level database of sequenced human mitochondrial genomes [50].

In human populations, genome - wide association studies have revealed associations between variants of the circadian clock — related gene Mntr1b, which encodes melatonin receptor 1B, fasting glucose concentrations, and the risk of type 2 diabetes (12 — 14).