AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature
Abstract
An automated pipeline parses primary literature about Mendelian diseases to rank patient candidate causative genes, thereby accelerating diagnosis.
Document Details
- Document Type
- Pub Defense Publication
- Publication Date
- May 20, 2020
- Source ID
- 10.1126/scitranslmed.aau9113
Entities
People
- Aaron M Wenger
- Alan H. Beggs
- Alexander J. Ratner
- Christopher Ré
- Cole A. Deisseroth
- David N. Cooper
- Ethan H Steinberg
- Gill Bejerano
- Harendra Guturu
- Johannes Birgmeier
- Jonathan A Bernstein
- Karthik Jagadeesh
- Mark Diekhans
- Maximilian Haeussler
- Peter D. Stenson
Organizations
- Cardiff University
- Harvard Medical School
- Microsoft Research
- National Human Genome Research Institute
- Stanford University
- University of California, Santa Cruz