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

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

Yuval Itan¹, Lei Shang¹, Bertrand Boisson^{1

2

3}, Michael J Ciancanelli¹, Janet G Markle¹, Ruben Martinez-Barricarte¹, Eric Scott⁴, Ishaan Shah¹, Peter D Stenson⁵, Joseph Gleeson^{4

6}, David N Cooper⁵, Lluis Quintana-Murci^{7

8}, Shen-Ying Zhang^{1

2

3}, Laurent Abel^{1

2

3}, Jean-Laurent Casanova^{1

2

3

6

9}

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.

No abstract available

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