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

Nature Methods - Tập 13 Số 2 - Trang 109-110 - 2016
Yuval Itan1, Lei Shang1, Bertrand Boisson1, Michael J. Ciancanelli1, Janet Markle1, Rubén Martínez‐Barricarte1, Eric Scott2, Ishaan Shah1, Peter D. Stenson3, Joseph G. Gleeson2, D.N. Cooper3, Lluís Quintana‐Murci4, Shen‐Ying Zhang5, Laurent Abel5, Jean‐Laurent Casanova5
1St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA
2Department of Neurosciences, Neurogenetics Laboratory, University of California, San Diego, San Diego, California, USA
3Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK
4Human Evolutionary Genetics Unit, Institut Pasteur, Paris, France
5Laboratory of Human Genetics of Infectious Diseases, Necker Branch INSERM U1163, Paris, France

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Nature Methods

Tập 13 Số 2

109-110

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