AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature-Reference-Cited by-同舟云学术

AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature

Published:2020-05-20 Issue:544 Volume:12 Page:
ISSN:1946-6234
Container-title:Science Translational Medicine
language:en
Short-container-title:Sci. Transl. Med.

Author:

Birgmeier Johannes¹^ORCID,Haeussler Maximilian²^ORCID,Deisseroth Cole A.¹,Steinberg Ethan H.¹^ORCID,Jagadeesh Karthik A.¹^ORCID,Ratner Alexander J.¹,Guturu Harendra³,Wenger Aaron M.³^ORCID,Diekhans Mark E.²^ORCID,Stenson Peter D.⁴,Cooper David N.⁴^ORCID,Ré Christopher¹,Beggs Alan H.⁵^ORCID,Bernstein Jonathan A.³^ORCID,Bejerano Gill¹³⁶⁷^ORCID

Affiliation:

1. Department of Computer Science, Stanford University, Stanford, CA 94305, USA.

2. Santa Cruz Genomics Institute, MS CBSE, University of California Santa Cruz, Santa Cruz, CA 95064, USA.

3. Department of Pediatrics, Stanford School of Medicine, Stanford, CA 94305, USA.

4. Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, UK.

5. Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, USA.

6. Department of Developmental Biology, Stanford University, Stanford, CA 94305, USA.

7. Department of Biomedical Data Science, Stanford University, Stanford, CA 94305, USA.

Abstract

An automated pipeline parses primary literature about Mendelian diseases to rank patient candidate causative genes, thereby accelerating diagnosis.

Funder

National Human Genome Research Institute

Stanford University

Microsoft Research

Defense Sciences Office, DARPA

Publisher

American Association for the Advancement of Science (AAAS)

Subject