Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders.

ABSTRACT: Clinical exome/genome sequencing is increasingly being utilized by clinicians to diagnose various likely genetic conditions, but many cases remain undiagnosed. In a subset of those undiagnosed cases, a single heterozygous variant in an autosomal recessive (AR) condition with consistent phenotype may be identified, raising the question if a second variant is missing. Here, we report two cases of recessive conditions in which only one heterozygous variant was initially reported by clinical exome sequencing, and on research reanalysis a second heterozygous variant in trans was identified. We performed a review of the existing exome reanalysis literature and found that this aspect is often not emphasized. These findings highlight the importance of data reanalysis in undiagnosed cases where onl

SUBMITTER: Li Q 

PROVIDER: S-EPMC10250359 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature