Best practices for the interpretation and reporting of clinical genome sequencing

被引：0

作者：

Austin-Tse, Chrissy ^{[1
]}

Jobanputra, Vaidehi ^{[2
]}

Perry, Denise ^{[3
]}

Bick, David ^{[4
]}

Taft, Ryan ^{[3
]}

Venner, Eric ^{[5
]}

Gibbs, Richard ^{[5
]}

Young, Ted ^{[6
]}

Barnett, Sarah

Belmont, John ^{[3
]}

Boczek, Nicole ^{[7
]}

Chowdhury, Shimul ^{[8
]}

Ellsworth, Katarzyna ^{[8
]}

Guha, Saurav

Kulkarni, Shashikant ^{[5
]}

Marcou, Cherisse ^{[7
]}

Meng, Linyan ^{[5
]}

Murdock, David ^{[5
]}

Rehman, Atteeq ^{[2
]}

Spiteri, Elizabeth ^{[9
]}

Thomas-Wilson, Amanda ^{[2
]}

Kearney, Hutton ^{[7
]}

Rehm, Heidi ^{[10
]}

机构：

[1] Massachusetts Gen Hosp, Boston, MA 02114 USA

[2] New York Genome Ctr, New York, NY USA

[3] Illumina Inc, San Diego, CA USA

[4] HudsonAlpha Inst Biotechnol, Huntsville, AL USA

[5] Baylor Coll Med, Houston, TX 77030 USA

[6] Hosp Sick Children, Toronto, ON, Canada

[7] Mayo Clin, Rochester, MN USA

[8] Rady Childrens Inst Genom Med, San Diego, CA USA

[9] Stanford Univ, Stanford, CA 94305 USA

[10] Broad Inst MIT & Harvard, Cambridge, MA USA

来源：

GENETICS IN MEDICINE | 2022年 / 24卷 / 03期

关键词：

D O I：

10.1016/j.gim.2022.01.587

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

OP039

引用

页码：S365 / S366

页数：2

共 50 条

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Austin-Tse, Christina A.
Jobanputra, Vaidehi
Perry, Denise L.
Bick, David
Taft, Ryan J.
Venner, Eric
Gibbs, Richard A.
Young, Ted
Barnett, Sarah
Belmont, John W.
Boczek, Nicole
Chowdhury, Shimul
Ellsworth, Katarzyna A.
Guha, Saurav
Kulkarni, Shashikant
Marcou, Cherisse
Meng, Linyan
Murdock, David R.
Rehman, Atteeq U.
Spiteri, Elizabeth
Thomas-Wilson, Amanda
Kearney, Hutton M.
Rehm, Heidi L.
[J]. NPJ GENOMIC MEDICINE, 2022, 7 (01)
[2] Best practices for the interpretation and reporting of clinical whole genome sequencing
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Vaidehi Jobanputra
Denise L. Perry
David Bick
Ryan J. Taft
Eric Venner
Richard A. Gibbs
Ted Young
Sarah Barnett
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Nicole Boczek
Shimul Chowdhury
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