Best practices for the interpretation and reporting of clinical whole genome sequencing.
Best practices for the interpretation and reporting of clinical whole genome sequencing.
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临床全基因组测序解读与报告的最佳实践。
DOI：
10.1038/s41525-022-00295-z
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发表时间：
2022-04-08
影响因子：
5.3
通讯作者：
Medical Genome Initiative*
中科院分区：
文献类型：
--
作者：
Austin-Tse CA;Jobanputra V;Perry DL;Bick D;Taft RJ;Venner E;Gibbs RA;Young T;Barnett S;Belmont JW;Boczek N;Chowdhury S;Ellsworth KA;Guha S;Kulkarni S;Marcou C;Meng L;Murdock DR;Rehman AU;Spiteri E;Thomas-Wilson A;Kearney HM;Rehm HL;Medical Genome Initiative*
全基因组测序（WGS）有望成为罕见遗传性疾病患者的一级诊断测试。然而，缺乏解决一流测试的定义和部署实践的标准。为了弥补这些差距，医学基因组计划（由美国和加拿大领先的医疗保健和研究组织组成的联盟）成立，旨在通过召集专家和发布最佳实践来扩大获得高质量临床全基因组测序的机会。在这里，我们提出了临床诊断 WGS 的解释和报告的最佳实践建议，包括对挑战和新兴方法的讨论，这些挑战和新兴方法对于充分发挥这一综合测试的潜力至关重要。
Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients with rare genetic disorders. However, standards addressing the definition and deployment practice of a best-in-class test are lacking. To address these gaps, the Medical Genome Initiative, a consortium of leading health care and research organizations in the US and Canada, was formed to expand access to high quality clinical WGS by convening experts and publishing best practices. Here, we present best practice recommendations for the interpretation and reporting of clinical diagnostic WGS, including discussion of challenges and emerging approaches that will be critical to harness the full potential of this comprehensive test.
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影响因子：
64.8
作者：
Bick AG;Weinstock JS;Nandakumar SK;Fulco CP;Bao EL;Zekavat SM;Szeto MD;Liao X;Leventhal MJ;Nasser J;Chang K;Laurie C;Burugula BB;Gibson CJ;Lin AE;Taub MA;Aguet F;Ardlie K;Mitchell BD;Barnes KC;Moscati A;Fornage M;Redline S;Psaty BM;Silverman EK;Weiss ST;Palmer ND;Vasan RS;Burchard EG;Kardia SLR;He J;Kaplan RC;Smith NL;Arnett DK;Schwartz DA;Correa A;de Andrade M;Guo X;Konkle BA;Custer B;Peralta JM;Gui H;Meyers DA;McGarvey ST;Chen IY;Shoemaker MB;Peyser PA;Broome JG;Gogarten SM;Wang FF;Wong Q;Montasser ME;Daya M;Kenny EE;North KE;Launer LJ;Cade BE;Bis JC;Cho MH;Lasky-Su J;Bowden DW;Cupples LA;Mak ACY;Becker LC;Smith JA;Kelly TN;Aslibekyan S;Heckbert SR;Tiwari HK;Yang IV;Heit JA;Lubitz SA;Johnsen JM;Curran JE;Wenzel SE;Weeks DE;Rao DC;Darbar D;Moon JY;Tracy RP;Buth EJ;Rafaels N;Loos RJF;Durda P;Liu Y;Hou L;Lee J;Kachroo P;Freedman BI;Levy D;Bielak LF;Hixson JE;Floyd JS;Whitsel EA;Ellinor PT;Irvin MR;Fingerlin TE;Raffield LM;Armasu SM;Wheeler MM;Sabino EC;Blangero J;Williams LK;Levy BD;Sheu WH;Roden DM;Boerwinkle E;Manson JE;Mathias RA;Desai P;Taylor KD;Johnson AD;NHLBI Trans-Omics for Precision Medicine Consortium;Auer PL;Kooperberg C;Laurie CC;Blackwell TW;Smith AV;Zhao H;Lange E;Lange L;Rich SS;Rotter JI;Wilson JG;Scheet P;Kitzman JO;Lander ES;Engreitz JM;Ebert BL;Reiner AP;Jaiswal S;Abecasis G;Sankaran VG;Kathiresan S;Natarajan P
通讯作者：
Natarajan P
影响因子：
3.5
作者：
Cipriani, Valentina;Pontikos, Nikolas;Smedley, Damian
通讯作者：
Smedley, Damian
影响因子：
3.8
作者：
Falk MJ;Shen L;Gonzalez M;Leipzig J;Lott MT;Stassen AP;Diroma MA;Navarro-Gomez D;Yeske P;Bai R;Boles RG;Brilhante V;Ralph D;DaRe JT;Shelton R;Terry SF;Zhang Z;Copeland WC;van Oven M;Prokisch H;Wallace DC;Attimonelli M;Krotoski D;Zuchner S;Gai X;MSeqDR Consortium Participants;MSeqDR Consortium participants: Sherri Bale, Jirair Bedoyan, Doron Behar, Penelope Bonnen, Lisa Brooks, Claudia Calabrese, Sarah Calvo, Patrick Chinnery, John Christodoulou, Deanna Church,;Rosanna Clima, Bruce H. Cohen, Richard G. Cotton, IFM de Coo, Olga Derbenevoa, Johan T. den Dunnen, David Dimmock, Gregory Enns, Giuseppe Gasparre,;Amy Goldstein, Iris Gonzalez, Katrina Gwinn, Sihoun Hahn, Richard H. Haas, Hakon Hakonarson, Michio Hirano, Douglas Kerr, Dong Li, Maria Lvova, Finley Macrae, Donna Maglott, Elizabeth McCormick, Grant Mitchell, Vamsi K. Mootha, Yasushi Okazaki,;Aurora Pujol, Melissa Parisi, Juan Carlos Perin, Eric A. Pierce, Vincent Procaccio, Shamima Rahman, Honey Reddi, Heidi Rehm, Erin Riggs, Richard Rodenburg, Yaffa Rubinstein, Russell Saneto, Mariangela Santorsola, Curt Scharfe,;Claire Sheldon, Eric A. Shoubridge, Domenico Simone, Bert Smeets, Jan A. Smeitink, Christine Stanley, Anu Suomalainen, Mark Tarnopolsky, Isabelle Thiffault, David R. Thorburn, Johan Van Hove, Lynne Wolfe, and Lee-Jun Wong
通讯作者：
Claire Sheldon, Eric A. Shoubridge, Domenico Simone, Bert Smeets, Jan A. Smeitink, Christine Stanley, Anu Suomalainen, Mark Tarnopolsky, Isabelle Thiffault, David R. Thorburn, Johan Van Hove, Lynne Wolfe, and Lee-Jun Wong
影响因子：
5.3
作者：
Clark, Michelle M.;Starke, Zornitza;Kingsmore, Stephen F.
通讯作者：
Kingsmore, Stephen F.
影响因子：
3.9
作者：
Ghosh, Rajarshi;Harrison, Steven M.;Biesecker, Leslie G.
通讯作者：
Biesecker, Leslie G.