Article
GeneBreaker: Variant simulation to improve the diagnosis of Mendelian rare genetic diseases.
Human mutation - 1 Apr 2021
Richmond Phillip A, Av-Shalom Tamar V, Fornes Oriol, Modi Bhavi, Elliott Alison M, Wasserman Wyeth W
Abstract excerpt
Mendelian rare genetic diseases affect 5%-10% of the population, and with over 5300 genes responsible for ∼7000 different diseases, they are challenging to diagnose. The use of whole-genome sequencing (WGS) has bolstered the diagnosis rate significantly. The effective use of WGS relies on the ability to identify the disrupted gene responsible for disease phenotypes. This process involves genomic variant calling...
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