Sentences with phrase «type 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.

Not exact matches

«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.»

An international consortium of researchers in the Genotype - Tissue Expression (GTEx) Consortium published findings about how genetic variation effects gene regulation in 44 human tissue types.

Genetic studies in humans, zebrafish and mice have revealed how two different types of genetic variations team up to cause a rare condition called Hirschsprung's dGenetic studies in humans, zebrafish and mice have revealed how two different types of genetic variations team up to cause a rare condition called Hirschsprung's dgenetic variations team up to cause a rare condition called Hirschsprung's disease.

Identifying human genetic variation altering risk of disease - especially susceptibility to infectious diseases, autoimmunity, and metabolic diseases (i.e., Type 2 Diabetes).

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.