Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases.

ABSTRACT: Genomic studies may generate massive amounts of data, bringing interpretation challenges. Efforts for the differentiation of benign and pathogenic variants gain importance. In this article, we used segregation analysis and other molecular data to reclassify to benign or likely benign several rare clinically curated variants of autosomal dominant inheritance from a cohort of 500 Brazilian patients with rare diseases. This study included only symptomatic patients who had undergone molecular investigation with exome sequencing for suspected diseases of genetic etiology. Variants clinically suspected as the causative etiology and harbored by genes associated with highly-penetrant conditions of autosomal dominant inheritance underwent Sanger confirmation in the proband and inheritance pattern d

SUBMITTER: Quaio CRD'C 

PROVIDER: S-EPMC9095660 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature