Publications by authors named "F Milanezi"
Article Synopsis
- Low-pass whole genome sequencing (LP-WGS) offers a cheaper method for detecting copy number variants (CNVs) compared to chromosomal microarray analysis (CMA), providing similar resolution for CNV detection.
- In a study with 1,363 patients experiencing neurodevelopmental challenges, LP-WGS yielded a positive result in 22% of cases, with 16% being diagnostic for pathogenic CNVs, comparable to CMA's diagnostic rates.
- The study highlights LP-WGS as a practical solution for countries like Brazil where CMA costs are high, making it easier to implement in clinical settings with the help of commercial software.
Article Synopsis
- - The study evaluated the use of whole genome sequencing (WGS) as a first-step diagnostic tool for critically ill infants in Brazilian neonatal intensive care units, with collaboration between private and public hospitals.
- - In a cohort of 21 infants suspected of genetic diseases, WGS provided a diagnostic yield of 57%, identifying various genetic variants, including 10 novel ones not found in existing databases.
- - The research highlighted the advantages of WGS over traditional genetic tests in diagnosing conditions like dysmorphic syndromes while also discussing the challenges and potential implications of integrating WGS into Brazil's healthcare system.
Homologous recombination deficiency (HRD) has become an important prognostic and predictive biomarker for patients with high-grade serous ovarian cancer who may benefit from poly-ADP ribose polymerase inhibitors (PARPi) and platinum-based therapies. HRD testing provides relevant information to personalize patients' treatment options and has been progressively incorporated into diagnostic laboratories. Here, we assessed the performance of an in-house HRD testing system deployable in a diagnostic clinical setting, comparing results from two commercially available next-generation sequencing (NGS)-based tumor tests (SOPHiA DDM HRD Solution and AmoyDx (HRD Focus Panel)) with the reference assay from Myriad MyChoice (CDx).
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- Next generation sequencing technology, specifically low-pass whole genome sequencing (LP-WGS), offers a cost-effective and time-efficient alternative for detecting copy number variants (CNVs) in clinical settings.
- In a study involving 44 DNA samples with known CNVs, LP-WGS successfully detected all imbalances with results comparable to those from chromosomal microarray analyses (CMA).
- The findings highlight LP-WGS as a reliable option for diagnosing chromosome imbalances, suggesting it can be readily integrated into routine clinical diagnostic practices.
We determined the frequency and mutational spectrum of BRCA1 and BRCA2 in a series of patients at high risk for developing breast cancer from Brazil. A total of 1267 patients were referred for BRCA genetic testing, and no obligation of fulfilling criteria of mutation probability methods for molecular screening was applied. Germline deleterious mutations in BRCA1/2 (i.
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