This Month in The Journal

The pace of research aiming to identify disease-associated human alleles has increased markedly since the introduction of next-generation sequencing. However, work to demonstrate pathogenicity remains laborious, and many variants remain classified as being of unknown significance. In addition to experiments aimed at directly testing discrete variants, model systems have been used for generating a wealth of information about genes whose homologs are implicated in human disease. However, accessing all the relevant information can be time intensive and cumbersome.

Source: The American Journal of Human Genetics - June 1, 2017 Category: Genetics & Stem Cells Authors: Sarah Ratzel, Sara B. Cullinan Tags: Editors' Corner Source Type: research