New Results
Perturbation robustness analyses reveal important parameters in variant interpretation pipelines
View ORCID ProfileYaqiong Wang, Aashish N. Adhikari, Uma Sunderam, View ORCID ProfileMark N. Kvale, Robert J. Currier, Renata C. Gallagher, View ORCID ProfilePui-Yan Kwok, Jennifer M. Puck, Rajgopal Srinivasan, View ORCID ProfileSteven E. Brenner
doi: https://doi.org/10.1101/2020.06.29.173815
Yaqiong Wang
1Department of Plant and Microbial Biology, University of California, Berkeley, California
Aashish N. Adhikari
1Department of Plant and Microbial Biology, University of California, Berkeley, California
Uma Sunderam
3Innovation Labs, Tata Consultancy Services, Hyderabad, India
Mark N. Kvale
2Institute for Human Genetics, University of California, San Francisco, California
Robert J. Currier
5Department of Pediatrics, University of California, San Francisco, California
Renata C. Gallagher
2Institute for Human Genetics, University of California, San Francisco, California
5Department of Pediatrics, University of California, San Francisco, California
Pui-Yan Kwok
2Institute for Human Genetics, University of California, San Francisco, California
6Cardiovascular Research Institute, University of California, San Francisco, California
7Department of Dermatology, University of California, San Francisco, California
Jennifer M. Puck
2Institute for Human Genetics, University of California, San Francisco, California
5Department of Pediatrics, University of California, San Francisco, California
6Cardiovascular Research Institute, University of California, San Francisco, California
8UCSF Benioff Children’s Hospital, Division of Allergy, Immunology and Blood and Marrow Transplantation, San Francisco, California
Rajgopal Srinivasan
3Innovation Labs, Tata Consultancy Services, Hyderabad, India
Steven E. Brenner
1Department of Plant and Microbial Biology, University of California, Berkeley, California
9Center for Computational Biology, University of California, Berkeley, California
Posted June 30, 2020.
Perturbation robustness analyses reveal important parameters in variant interpretation pipelines
Yaqiong Wang, Aashish N. Adhikari, Uma Sunderam, Mark N. Kvale, Robert J. Currier, Renata C. Gallagher, Pui-Yan Kwok, Jennifer M. Puck, Rajgopal Srinivasan, Steven E. Brenner
bioRxiv 2020.06.29.173815; doi: https://doi.org/10.1101/2020.06.29.173815
Perturbation robustness analyses reveal important parameters in variant interpretation pipelines
Yaqiong Wang, Aashish N. Adhikari, Uma Sunderam, Mark N. Kvale, Robert J. Currier, Renata C. Gallagher, Pui-Yan Kwok, Jennifer M. Puck, Rajgopal Srinivasan, Steven E. Brenner
bioRxiv 2020.06.29.173815; doi: https://doi.org/10.1101/2020.06.29.173815
Subject Area
Subject Areas
- Biochemistry (11752)
- Bioengineering (8752)
- Bioinformatics (29200)
- Biophysics (14974)
- Cancer Biology (12096)
- Cell Biology (17411)
- Clinical Trials (138)
- Developmental Biology (9421)
- Ecology (14182)
- Epidemiology (2067)
- Evolutionary Biology (18308)
- Genetics (12245)
- Genomics (16803)
- Immunology (11869)
- Microbiology (28097)
- Molecular Biology (11594)
- Neuroscience (60969)
- Paleontology (451)
- Pathology (1871)
- Pharmacology and Toxicology (3238)
- Physiology (4959)
- Plant Biology (10427)
- Synthetic Biology (2886)
- Systems Biology (7340)
- Zoology (1651)