Article
Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases.
Scientific reports - 11 May 2022
Quaio Caio Robledo D 'Angioli Costa, Ceroni Jose Ricardo Magliocco, Cervato Murilo Castro, Thurow Helena Strelow, Moreira Caroline Monaco, Trindade Ana Carolina Gomes, Furuzawa Cintia Reys, de Souza Rafaela Rogerio Floriano, Perazzio Sandro Felix, Dutra Aurelio Pimenta, Chung Christine Hsiaoyun, Kim Chong Ae
Abstract excerpt
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...
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