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Nat Methods. 2016 Feb;13(2):109-10. doi: 10.1038/nmeth.3739.

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

Author information

1
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.
2
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
3
Paris Descartes University, Imagine Institute, Paris, France.
4
Neurogenetics Laboratory, Department of Neurosciences, University of California, San Diego, San Diego, California, USA.
5
Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK.
6
Howard Hughes Medical Institute, New York, New York, USA.
7
Human Evolutionary Genetics Unit, Institut Pasteur, Paris, France.
8
Centre National de la Recherche Scientifique, URA 3012, Paris, France.
9
Pediatric Immunology-Hematology Unit, Necker Hospital for Sick Children, Paris, France.
PMID:
26820543
PMCID:
PMC4980758
DOI:
10.1038/nmeth.3739
[Indexed for MEDLINE]
Free PMC Article

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