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Gene Research Follows the Crowd

An interesting article about GeneTalk and how researchers found new disease causing genes via collaborations promoted by GeneTalk in GEN: http://www.genengnews.com/insight-and-intelligence/gene-research-follows-the-crowd/77899987/

GeneTalk links rare-disease geneticists, stokes collaborations.

Distinguishing pathogenic gene variants from those without clinical significance is difficult enough to have brought a present-day meaning to the nearly six-century-old metaphor of finding a needle in a haystack. Over the past two years, however, researchers have found a few of these proverbial needles with the help of a two-year-old web crowdsourcing platform designed for investigators focused on rare diseases.

GeneTalk lets investigators filter sequence variants with genotype frequencies, inheritance models, and expert-curated gene panels. Researchers can annotate sequence variants, incorpoate knowledge from other GeneTalk users about specific mutations, and discuss the variants and their biological and medical implications with those other users.

Peter Krawitz, Ph.D., a researcher at the Institute for … read more here