Hypotrichosis with juvenile macular dystrophy: Combination of whole ‐genome sequencing and genome‐wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole‐exome sequencing—A lesson from next‐generation sequencing

ConclusionWGS was able to identify a deep intronic deletion mutation, not detected by WES.

Source: Molecular Genetics & Genomic Medicine - September 26, 2019 Category: Genetics & Stem Cells Authors: Amir Hossein Saeidian, Hassan Vahidnezhad, Leila Youssefian, Soheila Sotudeh, Meisam Sargazi, Sirous Zeinali, Jouni Uitto Tags: ORIGINAL ARTICLE Source Type: research