Publications by authors named "Anne Caroline Barbosa Teixeira"
Background: Next-generation sequencing has had a significant impact on genetic disease diagnosis, but the interpretation of the vast amount of genomic data it generates can be challenging. To address this, the American College of Medical Genetics and Genomics and the Association for Molecular Pathology have established guidelines for standardized variant interpretation. In this manuscript, we present the updated Hospital Israelita Albert Einstein Standards for Constitutional Sequence Variants Classification, incorporating modifications from leading genetics societies and the ClinGen initiative.
View Article and Find Full Text PDFThe multifactorial etiology of pediatric cancer is poorly understood. Environmental factors occurring during embryogenesis can disrupt epigenetic signaling, resulting in several diseases after birth, including cancer. Associations between assisted reproductive technologies (ART), such as fertilization (IVF), and birth defects, disorders and other perinatal adverse events have been reported.
View Article and Find Full Text PDFGenomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.
Front Genet
August 2022
Article Synopsis
- Hearing loss (HL) is common and poses both clinical and social challenges; a study analyzed whole-genome sequencing data from 2,097 individuals without HL to find variant associations with nonsyndromic hearing loss (NSHL).
- The researchers identified 10.59% of individuals as heterozygotes for sequence variants and a lower percentage for copy-number variants, with certain genes frequently linked to HL.
- A notable finding was that 4.96% of participants had variants tied to autosomal dominant NSHL, suggesting a potential risk for future hearing loss, and the estimated population frequency for affected individuals with autosomal recessive NSHL was about 1 in 2,222.