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PMID: 26820543 Published · ppublish English Letter Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

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

Nature methods ·Vol. 13 ·No. 2 ·2016-02-00 ·Pages 109-10

Itan Y, Shang L, Boisson B, Ciancanelli MJ, Markle JG, Martinez-Barricarte R, Scott E, Shah I, Stenson PD, Gleeson J, Cooper DN, Quintana-Murci L, Zhang SY, Abel L, Casanova JL

Abstract

暂无摘要

MeSH Terms
Animals Genetic Predisposition to Disease Genetic Variation Humans Nucleic Acid Amplification Techniques/methods
Authors & Affiliations
15 authors, click to expand affiliations / ORCID
Itan Yuval
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.
Shang Lei
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.
Boisson Bertrand
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA. | Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France. | Paris Descartes University, Imagine Institute, Paris, France.
Ciancanelli Michael J
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.
Markle Janet G
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.
Martinez-Barricarte Ruben
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.
Scott Eric
Neurogenetics Laboratory, Department of Neurosciences, University of California, San Diego, San Diego, California, USA.
Shah Ishaan
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.
Stenson Peter D
Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK.
Gleeson Joseph
Neurogenetics Laboratory, Department of Neurosciences, University of California, San Diego, San Diego, California, USA. | Howard Hughes Medical Institute, New York, New York, USA.
Cooper David N
Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK.
Quintana-Murci Lluis
Human Evolutionary Genetics Unit, Institut Pasteur, Paris, France. | Centre National de la Recherche Scientifique, URA 3012, Paris, France.
Zhang Shen-Ying
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA. | Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France. | Paris Descartes University, Imagine Institute, Paris, France.
Abel Laurent
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA. | Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France. | Paris Descartes University, Imagine Institute, Paris, France.
Casanova Jean-Laurent
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA. | Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France. | Paris Descartes University, Imagine Institute, Paris, France. | Howard Hughes Medical Institute, New York, New York, USA. | Pediatric Immunology-Hematology Unit, Necker Hospital for Sick Children, Paris, France.
References (9)
9 references, click to expand
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Article Info
Journal
Nature methods
Abbr.
Nat Methods
ISSN
1548-7105
DOI
10.1038/nmeth.3739
Published
2016-02-00
Pages
109-10
Language
English
Region
United States
NLM ID
101215604
PMCID
PMC4980758
Subset
IM
Grants
NCATS NIH HHS · UL1 TR000043 · United States
External Links
PubMed source DOI: 10.1038/nmeth.3739 PMC Full Text View journal details
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