Sentences with phrase «human genetic variation»

A powerful and broader way to look for an effect of human genetic variation on the microbiome is to compare twins.
The unveiled human genetic variation has attracted much attention in both scientific and popular press.
First fine - scale study of human genetic variation in the country could lead to new medical treatments
Efforts such as the HapMap Project and 1,000 Genomes Project have characterized human genetic variation at an unprecedented scale.
Mice inserted with a rare human genetic variation in the dopamine transporter could lead to improvements in the diagnosis and treatment of brain disorders.
An open - source C / C + + library of analytical tools for human genetic variation data from whole - exome and whole - genome studies.
The study was conducted as part of the ImmVar Project, which leveraged BWH's PhenoGenetic Project, a «living biobank» of healthy volunteers willing to contribute blood samples to understand how human genetic variations affect how the human body functions.
Summary of the observations and recommendations included in the National Human Genome Center position statement on race and genetics by Charles N. Rotimi in Understanding and Using Human Genetic Variation Knowledge in the Design and Conduct of Biomedical Research.
«It offers a new window onto past human genetic variation, and is truly an important development in the history of our science and in the study of the past.»
While comparing DNA sequence patterns, the researchers noticed several similarities between the data sets: When plotting human genetic variation against that of the microbe, the researchers found that 73 percent of the DNA differences within a region could be explained by differences in H. pylori in the same population.
Because people exposed to Ebola show phenotypic variability in susceptibility to infection and disease severity, it is likely that human genetic variation contributes to individual immunity and infectivity and that host genetic differences are one factor among many that interact to influence the infection.
It follows from the last point above that the vast majority of common human genetic variation, i.e. SNPs with derived allele frequencies of at least 5 %, is neutral or nearly neutral with respect to fitness.
The Center for Research on Genomics and Global Health (CRGGH) aims to facilitate a global understanding of the relationship between human genetic variation and population differences in disease distribution, with the ultimate goal of informing health inequalities.
The researchers used the very large survey of human genetic variation called HapMap for their analysis, which compared human variations with the chimpanzee genome.
Our research focuses on the application of large - scale genomic analysis to unravel the spectrum of human genetic variation associated with cardiometabolic diseases, and its interaction with non-genetic and environmental cues.
December 21, 2015 — Noteworthy NIH advances in basic research include charting human genetic variation across the globe, the discovery of lymphatic vessels in the central nervous system, and insights into energy - burning fat cells.
I think that few people appreciate the scale of the 1,000 Genomes Project and just how much information it's already yielding about human genetic variation.
Biochemical Individuality by Roger Williams (sample reference: Motulsky A. Human genetic variation and nutrition.
Although the vast majority of genetic variation exists within populations (Lewontin, 1972), a measurable proportion of human genetic variation does exist between populations of different ancestral origins.
Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response.
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 transgenic mouse, into which was inserted a rare human genetic variation in the dopamine transporter (DAT), could lead to improvements in the diagnosis and treatment of these all - too - common brain disorders, said Randy Blakely, Ph.D., the report's senior author.
«Thus, it is clear that further studies must investigate an increasingly complex matrix of cell types and conditions to fully understand the role of human genetic variation in disease.»
The 1000 Genomes Project, a private - public consortium established in 2008, aims to create a detailed map of human genetic variation.
I continued working at the interface of science and epidemiology, first with Genaissance Pharmaceuticals, a New Haven - based pharmacogenomics company, where I was involved in the fascinating study of human genetic variation and population genetics.
Single - nucleotide polymorphisms (SNPs — pronounced «snips») are the most common type of human genetic variation; each one represents a small difference in a nucleotide — the building blocks of our DNA.
Among other initiatives, his group contributes to ENCODE (Encyclopedia of DNA Elements), supported by NIH to define functional genomic elements; the DOE Systems Biology Knowledgebase (KBase) for data sharing and analysis; and the internationally funded 1000 Genomes Project on human genetic variation.
That is why initiatives to map human genetic variation, such as the 1000 Genomes Project, and efforts to map the web of molecular interaction encoded by genes — the «interactome» — represent the best of science: one step ahead, striving to answer questions that have only just been formulated.
His research at Roche Molecular Systems involves analysis of human genetic variation and genetic predisposition to a variety of diseases, with a focus on autoimmune diseases (in particular type 1 diabetes), and the development of HLA (human leukocyte antigen) typing tests.
The start - up's mission is to understand the nature of human genetic variation and its impact on human disease (medical genomics) and treatment (pharmacogenomics).
These bold words, from Marie - Claire King, a geneticist at the University of California, Berkeley, refer to a new and controversial proposal to create a global map of human genetic variation.
The 1000 Genomes Project, established in 2008, is an international research effort to establish the most detailed catalog of human genetic variation.
Ten large, fiercely competitive pharmaceutical companies and the Wellcome Trust, a British charity, are teaming up to spend $ 45 million to create an archive of human genetic variation.
It's a comment made over and over by geneticists: To fully understand the role of human genetic variation and its role in disease, researchers need to pool DNA and clinical data from millions of people.
Entire swaths of human genetic variation, however, remain to be understood and we should push toward the routine de novo assembly of genomes as opposed to simply aligning to a reference for variant discovery.
De novo mutations — sequence variants that are present in a child but absent from both parents — are an important source of human genetic variation.
His group gives particular thought to ways in which scientists document and describe the nonrandom pattern of human genetic variation and its link to disease risks in different populations.
u «Large - scale surveys of human genetic variation have reported signatures of recent explosive population growth, notable for an excess of rare genetic variants, suggesting that many mutations arose recently.
This study of human genetic variation and its relationship to health and disease involves a large number of study participants and will capture not only common single nucleotide variations but also rare copy number and structural variants that are increasingly thought to play an important role in complex disease.
«Large - scale surveys of human genetic variation have reported signatures of recent explosive population growth, notable for an excess of rare genetic variants, suggesting that many mutations arose recently.
The first of these efforts took the form of the International HapMap Project and later the 1,000 Genomes Project, whose goal was to characterize human genetic variation.
Meanwhile, our knowledge of human genetic variation (as judged by the size of dbSNP) skyrocketed:
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