ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.
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DOI：
10.1002/humu.23645
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发表时间：
2018-11
期刊：
影响因子：
3.9
通讯作者：
Berg JS
中科院分区：
文献类型：
--
作者：
Rivera-Muñoz EA;Milko LV;Harrison SM;Azzariti DR;Kurtz CL;Lee K;Mester JL;Weaver MA;Currey E;Craigen W;Eng C;Funke B;Hegde M;Hershberger RE;Mao R;Steiner RD;Vincent LM;Martin CL;Plon SE;Ramos E;Rehm HL;Watson M;Berg JS
基因组规模测序产生了大量的基因组数据，增加了临床序列变异解释的挑战。对高质量解释的需求需要多个专业联合起来，以加速对序列变异致病性的解释。由美国国立卫生研究院（NIH）资助的临床基因组资源（ClinGen）拥有600多名国际成员，包括临床医生，研究人员和实验室诊断人员，正在组建专家组，以系统地评估临床相关基因的变异。在这里，我们描述了第一个ClinGen变异库化专家小组（VCEP），建立新的VCEP的一致和简化的过程的发展，并为VCEP创建标准操作程序（SOP），以定义ACMG/AMP指南在特定基因或疾病中的序列变异解释的应用。此外，ClinGen还创建了用户界面，以提高策展的可靠性，并创建了序列变异解释工作组（SVI WG），以协调指南规范并确保组间的一致性。VCEP的扩增代表了主要机制，通过该机制，可以加速并最终系统和全面地进行基因组变异的大部分的管理。我们欢迎团体利用我们的资源，并参与我们的努力，为临床相关基因和变异创建一个公开访问的集中资源。
Genome-scale sequencing creates vast amounts of genomic data, increasing the challenge of clinical sequence variant interpretation. The demand for high-quality interpretation requires multiple specialties to join forces to accelerate the interpretation of sequence variant pathogenicity. With over 600 international members including clinicians, researchers, and laboratory diagnosticians, the Clinical Genome Resource (ClinGen), funded by the National Institutes of Health (NIH), is forming expert groups to systematically evaluate variants in clinically relevant genes. Here, we describe the first ClinGen Variant Curation Expert Panels (VCEPs), development of consistent and streamlined processes for establishing new VCEPs, and creation of standard operating procedures (SOPs) for VCEPs to define application of the ACMG/AMP guidelines for sequence variant interpretation in specific genes or diseases. Additionally, ClinGen has created user interfaces to enhance reliability of curation and a Sequence Variant Interpretation Working Group (SVI WG) to harmonize guideline specifications and ensure consistency between groups. The expansion of VCEPs represents the primary mechanism by which curation of a substantial fraction of genomic variants can be accelerated and ultimately undertaken systematically and comprehensively. We welcome groups to utilize our resources and become involved in our effort to create a publicly accessible, centralized resource for clinically relevant genes and variants.
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DOI：
10.1038/gim.2017.218
发表时间：
2018-03
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Kelly MA;Caleshu C;Morales A;Buchan J;Wolf Z;Harrison SM;Cook S;Dillon MW;Garcia J;Haverfield E;Jongbloed JDH;Macaya D;Manrai A;Orland K;Richard G;Spoonamore K;Thomas M;Thomson K;Vincent LM;Walsh R;Watkins H;Whiffin N;Ingles J;van Tintelen JP;Semsarian C;Ware JS;Hershberger R;Funke B
通讯作者：
Funke B
影响因子：
3.9
作者：
Mester JL;Ghosh R;Pesaran T;Huether R;Karam R;Hruska KS;Costa HA;Lachlan K;Ngeow J;Barnholtz-Sloan J;Sesock K;Hernandez F;Zhang L;Milko L;Plon SE;Hegde M;Eng C
通讯作者：
Eng C
影响因子：
--
作者：
Furqan, Aisha;Arscott, Patricia;Caleshu, Colleen
通讯作者：
Caleshu, Colleen
影响因子：
9.8
作者：
Garber, Kathryn B.;Vincent, Lisa M.;Hegde, Madhuri
通讯作者：
Hegde, Madhuri
影响因子：
1.8
作者：
Azzariti DR;Riggs ER;Niehaus A;Rodriguez LL;Ramos EM;Kattman B;Landrum MJ;Martin CL;Rehm HL
通讯作者：
Rehm HL