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 ...
Genetic variation is the foundation of human diversity, enabling differences in traits such as height, eye color, or blood type. Some sequence variants also cause inherited diseases, including sickle ...
The Clinical Genome Resource (ClinGen), a National Institutes of Health (NIH)-funded resource that works to define the clinical relevance of genes and variants, has published data on more than 2,700 ...
The Clinical Genome Resource (ClinGen), a resource that works to define the clinical relevance of genes and variants, has published data on more than 2,700 genes curated for relevance to genetic ...
The American College of Medical Genetics and Genomics (ACMG) has published a new clinical practice resource, "Management of Individuals with Heterozygous Germline Pathogenic Variants in RAD51C, RAD51D ...
CDKN2C-Null Leiomyosarcoma: A Novel, Genomically Distinct Class of TP53/RB1–Wild-Type Tumor With Frequent CIC Genomic Alterations and 1p/19q-Codeletion The variant classification program used by the ...
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 ...
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