How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies
Year: 2020
Type: review
Abstract: he broad use of next-generation sequencing and microarray platforms in research and clinical laboratories has led to an increasing appreciation of the role of germline mutations in genes involved in hematopoiesis and lineage differentiation that contribute to myeloid neoplasms.Despite implementation of the American College of Medical Genetics and Genomics and Association for Molecular Pathology 2015 guidelines for sequence variant interpretation, the number of variants deposited in ClinVar, a genomic repository of genotype and phenotype data, and classified as having uncertain significance or being discordantly classified among clinical laboratories remains elevated and contributes to indeterminate or inconsistent patient care.In 2018, the American Society of Hematology and the Clinical Genome Resource co-sponsored the Myeloid Malignancy Variant Curation Expert Panel to develop rules for classifying gene variants associated with germline predisposition to myeloid neoplasia.Herein, we demonstrate application of our rules developed for the RUNX1 gene to variants in six examples to show how we would classify them within the proposed framework.
Source: Haematologica
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,157
Funders: Cancer Research Institute, American Society of Hematology, Children's Hospital of Philadelphia, Emory University, Memorial Sloan-Kettering Cancer Center, University of Washington, Queen Mary University of London, Institut National de la Santé et de la Recherche Médicale, Università degli Studi di Pavia, Uppsala Universitet, National Institutes of Health, University of Texas MD Anderson Cancer Center, Houston Methodist Research Institute, Knight Cancer Institute, Oregon Health and Science University, National Human Genome Research Institute, National Cancer Institute, Abramson Family Cancer Research Institute
OpenAlex ID: W3011827329