首页> 外文期刊>Haematologica >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
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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

机译:我如何策划:应用美国血液学学会 - 临床基因组资源骨髓恶性变异策策专家组织规则<斜视> runx1 变异策委,为骨髓性恶性肿瘤进行种系易感性

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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.
机译:在研究和临床实验室中的下一代测序和微阵列平台的广泛使用导致了对参与血液缺陷和血栓瘤的血管瘤的基因中种系中的作用的升高。尽管实施了美国医学遗传学和基因组学和分子病理学协会的序列变异解释准则,但在ClinVAR中沉积的变体的数量,基因型和表型数据的基因组储存,并被归类为具有不确定的意义或不一致分类在临床实验室中仍然升高,有助于不确定或不一致的患者护理。 2018年,美国血液学协会和临床基因组资源共同赞助了髓曲调恶性变异策策专家组,以制定分类与种系易感性相关的基因变体的规则,以对髓瘤瘤形成相关。在此,我们展示了我们对Runx1基因开发的规则的应用,以六个例子中的变体,以展示我们如何在拟议的框架内对它们进行分类。

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