Sentences with phrase «common human genetic variation»

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.

Not exact matches

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.

Adds Visscher: «This is entirely in line with theory and previous inference from SNP [variant] data, yet for some reason many researchers in human genetics and epidemiology continue to believe that there is a lot of non-additive genetic variation for common diseases and quantitative traits.»

Published September 15 in Genome Biology, the study relied on new software for researchers that identifies connections between seemingly unrelated human diseases and traits through the tiny, risk - conferring genetic variations they have in common.

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.

If this is true, then there are important implications for genetic association studies, which often rely on surveys of common genetic variation in the human genome.

Our first striking observation was that over one half of measured genes are affected by common genetic variation in human populations — called expression quantitative trait loci or eQTLs.

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.

Not so long ago, there was a hope in the research community that common genetic variation, i.e. variants present at minor allele frequencies > 5 % in human populations, might explain most or all of the heritability of common complex disease.

Human Genetic Variation and Common Disease David Altshuler, MD, PhD Professor of Genetics and of Medicine, Harvard Medical School and Massachusetts General Hospital Deputy Director and Chief Academic Officer, The Broad Institute of MIT and Harvard

Dr. Talkowski has performed seminal studies to introduce high - resolution genomics techniques to delineate the types of genetic variation that were classically defined using cytogenetic methods, which has discovered new classes of complex genomic variation in the human genome that are remarkably common yet otherwise cryptic to conventional technologies.

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 diseases.