This Month in Genetics

Even with exome and whole-genome sequencing, diagnoses can be made in only about one-quarter of individuals presumed to have a Mendelian disorder. Not satisfied with this success rate, Cummings et  al. made use of the fact that many people with muscular disorders have muscle biopsies as part of their diagnostic workup and used these samples as sources of RNA for transcript analysis in muscle. They compared RNA sequencing (RNA-seq) of the biopsies with a large control dataset to seek DNA vari ants that affect RNA splicing or the relative abundance of the two alleles.

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