«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.»
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.
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.
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.
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.
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.
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).