New Results
Large-scale clinical interpretation of genetic variants using evolutionary data and deep learning
View ORCID ProfileJonathan Frazer, View ORCID ProfilePascal Notin, View ORCID ProfileMafalda Dias, View ORCID ProfileAidan Gomez, View ORCID ProfileKelly Brock, View ORCID ProfileYarin Gal, View ORCID ProfileDebora S. Marks
doi: https://doi.org/10.1101/2020.12.21.423785
Jonathan Frazer
1Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.
Pascal Notin
2OATML Group, Department of Computer Science, University of Oxford, Oxford, OX1 3QD, UK.
Mafalda Dias
1Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.
Aidan Gomez
2OATML Group, Department of Computer Science, University of Oxford, Oxford, OX1 3QD, UK.
Kelly Brock
1Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.
Yarin Gal
2OATML Group, Department of Computer Science, University of Oxford, Oxford, OX1 3QD, UK.
Debora S. Marks
1Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.
3Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
Article usage
Posted December 22, 2020.
Large-scale clinical interpretation of genetic variants using evolutionary data and deep learning
Jonathan Frazer, Pascal Notin, Mafalda Dias, Aidan Gomez, Kelly Brock, Yarin Gal, Debora S. Marks
bioRxiv 2020.12.21.423785; doi: https://doi.org/10.1101/2020.12.21.423785
Subject Area
Subject Areas
- Biochemistry (11700)
- Bioengineering (8715)
- Bioinformatics (29120)
- Biophysics (14927)
- Cancer Biology (12047)
- Cell Biology (17347)
- Clinical Trials (138)
- Developmental Biology (9405)
- Ecology (14140)
- Epidemiology (2067)
- Evolutionary Biology (18262)
- Genetics (12216)
- Genomics (16761)
- Immunology (11840)
- Microbiology (27999)
- Molecular Biology (11549)
- Neuroscience (60784)
- Paleontology (450)
- Pathology (1864)
- Pharmacology and Toxicology (3228)
- Physiology (4937)
- Plant Biology (10382)
- Synthetic Biology (2876)
- Systems Biology (7332)
- Zoology (1642)