Accurate classification of genetic alterations is important to ensure the provision of high-quality clinical data. For interpretation of germline alterations, there are standardized guidelines dating ...
The American College of Medical Genetics and Genomics (ACMG) has released updated recommendations for CFTR carrier screening: "Updated recommendations for CFTR carrier screening: A position statement ...
Genetic risk models, including PREMMplus and BOADICEA/CanRisk, refine breast cancer risk assessment by incorporating genetic status and polygenic risk scores. Challenges in classifying gene variants, ...
Copy number variant (CNV) analysis has been part of clinical diagnostics for almost two decades. With the evolution of genomic technologies for CNV detection, we have learned that CNVs can range in ...
Identification of Genetic Risk Factors for Familial Urinary Bladder Cancer: An Exome Sequencing Study The use of the American College of Medical Genetics and Genomics and the Association for Molecular ...
In 2020, the ACMG published an updated set of technical standards for CFTR variant testing which recommended that laboratories could now use either targeted or comprehensive methods for testing and at ...
In a recent study published in Nature Genetics, researchers performed saturation genome editing (SGE) of the BRCA1-associated protein-1 gene (BAP1), whose dysfunction is related to cancer and impaired ...
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