Publications by authors named "Andre Yuji Oku"
Diagnostic 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 Andre Yuji Oku
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.
Congenital hypogonadotrophic hypogonadism (CHH) is a challenging inherited endocrine disorder characterised by absent or incomplete pubertal development and infertility as a result of the low action/secretion of the hypothalamic gonadotrophin-releasing hormone (GnRH). Given a growing list of gene mutations accounting for CHH, the application of massively parallel sequencing comprises an excellent molecular diagnostic approach because it enables the simultaneous evaluation of many genes. The present study proposes the use of whole exome sequencing (WES) to identify causative and modifying mutations based on a phenotype-genotype CHH analysis using an in-house exome pipeline.
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- Breast cancer is the most prevalent cancer among women, while ovarian cancer is hard to diagnose, with BRCA1 and BRCA2 mutations significantly raising the risk for both types of cancer.
- A study evaluated a customized panel for detecting mutations in the BRCA genes using a specific sequencing platform, achieving a high sensitivity of 95.6% and complete agreement with previous tests from Myriad Genetics.
- The research emphasizes the importance of using reliable methods for sample preparation and data analysis in enhancing test sensitivity and reproducibility, while also recognizing the need to address challenges associated with next-generation sequencing techniques in clinical settings.