Sentences with phrase «of human genetic variation»

A powerful and broader way to look for an effect of human genetic variation on the microbiome is to compare twins.
First fine - scale study of human genetic variation in the country could lead to new medical treatments
The researchers used the very large survey of human genetic variation called HapMap for their analysis, which compared human variations with the chimpanzee genome.
The 1000 Genomes Project, a private - public consortium established in 2008, aims to create a detailed map of human genetic variation.
«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, established in 2008, is an international research effort to establish the most detailed catalog of human genetic variation.
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.
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).
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.
Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response.
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.
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.
Meanwhile, our knowledge of human genetic variation (as judged by the size of dbSNP) skyrocketed:
His research focuses on the use of genomic approaches to uncover the functional impact of human genetic variation, and especially its role in causing severe Mendelian diseases.
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.
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.
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.
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.
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.
These deep catalogs of human genetic variation should make it possible to discount an ever - larger - swath of rare but neutral variants.
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 patterns of human genetic variation, however, correspond poorly with visible morphological differences.
Pierce et al. in a fascinating BMJ article state that only 7 % of human genetic variation is due to race and very few of these variations relate to health, skewering the thrifty gene hypothesis along the way (Pearce, Foliaki et al. 2004).
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