期刊
HAEMATOLOGICA
卷 105, 期 4, 页码 870-887出版社
FERRATA STORTI FOUNDATION
DOI: 10.3324/haematol.2018.214221
关键词
-
类别
资金
- Baylor College of Medicine
- University of North Carolina, National Institutes of Health (NIH)
- NIH [U41HG009649, U41HG009650]
- 2018 NIH/NCI Leukemia SPORE DRP award [P50CA100632-16, 00007529]
The 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.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据