Copy number variation (CNV) identification, interpretation, and database from Brazilian patients.

ABSTRACT: Copy number variations (CNVs) constitute an important class of variation in the human genome and the interpretation of their pathogenicity considering different frequencies across populations is still a challenge for geneticists. Since the CNV databases are predominantly composed of European and non-admixed individuals, and Brazilian genetic constitution is admixed and ethnically diverse, diagnostic screenings on Brazilian variants are greatly difficulted by the lack of populational references. We analyzed a clinical sample of 268 Brazilian individuals, including patients with neurodevelopment disorders and/or congenital malformations. The pathogenicity of CNVs was classified according to their gene content and overlap with known benign and pathogenic variants. A total of 1,504 autosomal C

SUBMITTER: Godoy VCSM 

PROVIDER: S-EPMC7783508 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature