New Results
Determining the impact of putative loss-of-function variants in protein-coding genes
Suganthi Balasubramanian, Yao Fu, Mayur Pawashe, View ORCID ProfilePatrick McGillivray, Mike Jin, Jeremy Liu, Konrad J. Karczewski, Daniel G. MacArthur, View ORCID ProfileMark Gerstein
doi: https://doi.org/10.1101/106468
Suganthi Balasubramanian
1Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT 06520 USA
2Molecular Biophysics and Biochemistry Department, Yale University, New Haven 06520, CT, USA
6Regeneron Genetics Center, Tarrytown, NY 10591, USA
Yao Fu
1Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT 06520 USA
7Bina Technologies, Part of Roche Sequencing, Belmont 94002, CA, USA
Mayur Pawashe
2Molecular Biophysics and Biochemistry Department, Yale University, New Haven 06520, CT, USA
Patrick McGillivray
2Molecular Biophysics and Biochemistry Department, Yale University, New Haven 06520, CT, USA
Mike Jin
2Molecular Biophysics and Biochemistry Department, Yale University, New Haven 06520, CT, USA
Jeremy Liu
2Molecular Biophysics and Biochemistry Department, Yale University, New Haven 06520, CT, USA
Konrad J. Karczewski
3Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
4Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA
Daniel G. MacArthur
3Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
4Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA
Mark Gerstein
1Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT 06520 USA
2Molecular Biophysics and Biochemistry Department, Yale University, New Haven 06520, CT, USA
5Department of Computer Science, Yale University, New Haven 06520, CT, USA
Article usage
Posted February 07, 2017.
Determining the impact of putative loss-of-function variants in protein-coding genes
Suganthi Balasubramanian, Yao Fu, Mayur Pawashe, Patrick McGillivray, Mike Jin, Jeremy Liu, Konrad J. Karczewski, Daniel G. MacArthur, Mark Gerstein
bioRxiv 106468; doi: https://doi.org/10.1101/106468
Subject Area
Subject Areas
- Biochemistry (11745)
- Bioengineering (8751)
- Bioinformatics (29194)
- Biophysics (14971)
- Cancer Biology (12095)
- Cell Biology (17411)
- Clinical Trials (138)
- Developmental Biology (9421)
- Ecology (14178)
- Epidemiology (2067)
- Evolutionary Biology (18305)
- Genetics (12245)
- Genomics (16801)
- Immunology (11867)
- Microbiology (28083)
- Molecular Biology (11592)
- Neuroscience (60962)
- Paleontology (451)
- Pathology (1870)
- Pharmacology and Toxicology (3238)
- Physiology (4959)
- Plant Biology (10427)
- Synthetic Biology (2885)
- Systems Biology (7339)
- Zoology (1651)