Harmonizing variant classification for return of results in the All of Us Research Program.
Harmonizing variant classification for return of results in the All of Us Research Program.
复制标题
DOI：
10.1002/humu.24317
复制
发表时间：
2022-08
期刊：
影响因子：
3.9
通讯作者：
Rehm, Heidi L.
中科院分区：
文献类型：
--
作者：
Harrison, Steven M.;Austin-Tse, Christina A.;Kim, Serra;Lebo, Matthew;Leon, Annette;Murdock, David;Radhakrishnan, Aparna;Shirts, Brian H.;Steeves, Marcie;Venner, Eric;Gibbs, Richard A.;Jarvik, Gail P.;Rehm, Heidi L.
我们所有人的研究计划（AoURP）是一项历史性的努力，通过生成和整理来自美国100万人的数据来加速研究和改善医疗保健。参与者将可以选择从他们的基因组分析中获得结果，包括59个基因-疾病对中的可操作发现，这些基因-疾病对的疾病相关变体被美国医学遗传学和基因组学学院推荐返回。为了确保AoURP报告的一致性，在一项启动前研究中，四个参与的临床实验室共享了其内部数据库中59个感兴趣基因的所有变体分类。在4个实验室中至少有2个实验室分类的11，813种独特变异中，99.1%（11，711）的分类在可报告性方面一致，仅0.9%（102）存在可报告性差异。通过变体重新评估、数据共享和原理讨论，参与实验室解决了所有102个可报告差异。这些方法将在日常AoU报告期间保持，以确保AoURP内持续的分类协调和一致的报告。
The All of Us Research Program (AoURP) is a historic effort to accelerate research and improve healthcare by generating and collating data from one million people in the United States. Participants will have the option to receive results from their genome analysis, including actionable findings in 59 gene‐disorder pairs for which disorder‐associated variants are recommended for return by the American College of Medical Genetics and Genomics. To ensure consistent reporting across the AoURP, in a prelaunch study the four participating clinical laboratories shared all variant classifications in the 59 genes of interest from their internal databases. Of the 11,813 unique variants classified by at least two of the four laboratories, classifications were concordant with regard to reportability for 99.1% (11,711), with only 0.9% (102) having reportability differences. Through variant reassessment, data sharing, and discussion of rationale, participating laboratories resolved all 102 reportable differences. These approaches will be maintained during routine AoU reporting to ensure continuous classification harmonization and consistent reporting within AoURP.
登录
查看更多内容
影响因子：
3.9
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
通讯作者：
Berg JS
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
DOI：
10.1056/nejmsr1809937
发表时间：
2019-08-15
期刊：
The New England journal of medicine
影响因子：
--
作者：
All of Us Research Program Investigators;Denny JC;Rutter JL;Goldstein DB;Philippakis A;Smoller JW;Jenkins G;Dishman E
通讯作者：
Dishman E
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：
9.8
作者：
Amendola, Laura M.;Muenzen, Kathleen;Jarvik, Gail P.
通讯作者：
Jarvik, Gail P.