关于霍拉克等人对《癌症体细胞变异致病性分类标准（致癌性）：临床基因组资源（ClinGen）、癌症基因组学联盟（CGC）和癌症变异解读联盟（VICC）联合建议》的通信 - Suppr

Correspondence on "Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC)" by Horak et al.

作者信息

Mehta Nikita, He Rong, Viswanatha David S

机构信息

Department of Laboratory Medicine and Pathology, Molecular Hematology Laboratory, Mayo Clinic, Rochester, MN; Department of Pathology, Diagnostic Molecular Genetics Laboratory, Memorial Sloan Kettering Cancer Center, New York, NY.

Department of Laboratory Medicine and Pathology, Molecular Hematology Laboratory, Mayo Clinic, Rochester, MN.

出版信息

Genet Med. 2022 Sep;24(9):1986-1988. doi: 10.1016/j.gim.2022.05.017. Epub 2022 Jul 2.

DOI:10.1016/j.gim.2022.05.017

PMID:35779071

Abstract

摘要

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Correspondence on "Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC)" by Horak et al.关于霍拉克等人对《癌症体细胞变异致病性分类标准（致癌性）：临床基因组资源（ClinGen）、癌症基因组学联盟（CGC）和癌症变异解读联盟（VICC）联合建议》的通信

Genet Med. 2022 Sep;24(9):1986-1988. doi: 10.1016/j.gim.2022.05.017. Epub 2022 Jul 2.

Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).癌症体细胞变异致病性分类标准（致癌性）：临床基因组资源（ClinGen）、癌症基因组联盟（CGC）和癌症变异解读联盟（VICC）的联合建议。

Genet Med. 2022 May;24(5):986-998. doi: 10.1016/j.gim.2022.01.001. Epub 2022 Jan 29.

Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).癌症体细胞变异致病性分类标准（致癌性）：临床基因组资源（ClinGen）、癌症基因组学联盟（CGC）和癌症变异解读联盟（VICC）的联合建议

Genet Med. 2022 Sep;24(9):1991. doi: 10.1016/j.gim.2022.07.001.

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Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards.将众包的癌症临床注释工作在 CIViC 中适配到 ClinGen 最低变异级别数据社区驱动标准。

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Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes.将体细胞变异数据和生物标志物整合到癌症易感性基因的种系变异分类中。

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ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.ClinGen 变异体管理界面：一个用于应用 ACMG/AMP 指南证据标准的变异体分类平台。

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Correspondence on "Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC)" by Horak et al.

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