The mutation significance cutoff: gene-level thresholds for variant predictions

被引：243

作者：

Itan, Yuval ^{[1
]}

Shang, Lei ^{[1
]}

Boisson, Bertrand ^{[1
,2
,3
]}

Ciancanelli, Michael J. ^{[1
]}

Markle, Janet G. ^{[1
]}

Martinez-Barricarte, Ruben ^{[1
]}

Scott, Eric ^{[4
]}

Shah, Ishaan ^{[1
]}

Stenson, Peter D. ^{[5
]}

Gleeson, Joseph ^{[4
,6
]}

Cooper, David N. ^{[5
]}

Quintana-Murci, Lluis ^{[7
,8
]}

Zhang, Shen-Ying ^{[1
,2
,3
]}

Abel, Laurent ^{[1
,2
,3
]}

Casanova, Jean-Laurent ^{[1
,2
,3
,6
,9
]}

机构：

[1] Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, 1230 York Ave, New York, NY 10021 USA

[2] INSERM, U1163, Lab Human Genet Infect Dis, Paris, France

[3] Paris Descartes Univ, Imagine Inst, Paris, France

[4] Univ Calif San Diego, Dept Neurosci, Neurogenet Lab, San Diego, CA 92103 USA

[5] Cardiff Univ, Sch Med, Inst Med Genet, Cardiff CF10 3AX, S Glam, Wales

[6] Howard Hughes Med Inst, New York, NY USA

[7] Inst Pasteur, Human Evolutionary Genet Unit, Paris, France

[8] CNRS, URA 3012, Paris, France

[9] Necker Hosp Sick Children, Pediat Immunol Hematol Unit, Paris, France

来源：

NATURE METHODS | 2016年 / 13卷 / 02期

关键词：

FRAMEWORK;

D O I：

10.1038/nmeth.3739

中图分类号：

Q5 [生物化学];

学科分类号：

070307 [化学生物学];

摘要：

引用

页码：109 / 110

页数：2

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