Publications by authors named "Cintia Reys Furuzawa"
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.
View Article and Find Full Text PDFDiagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases.
Caio Robledo D'Angioli Costa Quaio Caroline Monaco Moreira Gil Monteiro Novo-Filho Patricia Rossi Sacramento-Bobotis Michele Groenner Penna Cintia Reys Furuzawa
Am J Med Genet C Semin Med Genet
December 2020
Article Synopsis
- Rare diseases, often genetic, were studied in 500 patients using exome sequencing (ES), resulting in a diagnostic yield of 31.6% with 164 primary findings.
- The majority of findings were from autosomal dominant conditions (61.6%), with significant rates of successful diagnosis in younger children and those with specific conditions like gastrointestinal diseases.
- Notably, 15.6% of patients had potential for improved care through targeted therapies, and secondary findings in 37 patients could increase life expectancy by over 123 years for the cohort combined.