Publications by authors named "Otavio Jose Eulalio Pereira"
Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases.
Genet Mol Biol
September 2021
Next-generation sequencing (NGS) has altered clinical genetic testing by widening the access to molecular diagnosis of genetically determined rare diseases. However, physicians may face difficulties selecting the best diagnostic approach. Our goal is to estimate the rate of possible molecular diagnoses missed by different targeted gene panels using data from a cohort of patients with rare genetic diseases diagnosed with exome sequencing (ES).
View Article and Find Full Text PDFFrequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients.
Am J Med Genet C Semin Med Genet
September 2021
Several Mendelian disorders follow an autosomal recessive inheritance pattern. Epidemiological information on many inherited disorders may be useful to guide health policies for rare diseases, but it is often inadequate, particularly in developing countries. We aimed to calculate the carrier frequencies of rare autosomal recessive Mendelian diseases in a cohort of Brazilian patients using whole exome sequencing (WES).
View Article and Find Full Text PDFDiagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases.
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.