GeneBreaker: Variant simulation to improve the diagnosis of Mendelian rare genetic diseases
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.24163
Abstract: 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… read more here.
Keywords: mendelian rare; diagnosis; genebreaker; variant simulation ... See more keywords