matchbox: An open-source tool for patient matching via the Matchmaker Exchange-Reference-Cited by-同舟云学术

matchbox: An open-source tool for patient matching via the Matchmaker Exchange

Published:2018-10-03 Issue:12 Volume:39 Page:1827-1834
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Arachchi Harindra¹²,Wojcik Monica H¹³^ORCID,Weisburd Benjamin¹,Jacobsen Julius O. B.⁴,Valkanas Elise¹,Baxter Samantha¹,Byrne Alicia B.¹⁵⁶,O'Donnell-Luria Anne H.¹³,Haendel Melissa⁷⁸,Smedley Damian⁴,MacArthur Daniel G.¹²⁹,Philippakis Anthony A.²,Rehm Heidi L.¹²⁹^ORCID

Affiliation:

1. Center for Mendelian Genomics; The Broad Institute of MIT and Harvard; Cambridge Massachusetts

2. The Broad Institute of MIT and Harvard; Cambridge Massachusetts

3. Division of Genetics and Genomics; Boston Children's Hospital; Harvard Medical School; Boston Massachusetts

4. William Harvey Research Institute; Barts & The London School of Medicine & Dentistry; Queen Mary University of London; Charterhouse Square London EC1M 6BQ, UK

5. Department of Genetics and Molecular Pathology; Centre for Cancer Biology; SA Pathology; Adelaide Australia

6. School of Pharmacy and Medical Sciences; University of South Australia; Adelaide Australia

7. Oregon Clinical and Translational Research Institute; Oregon Health & Science University; Portland Oregon

8. Linus Pauling Institute; Oregon State University; Corvallis Oregon

9. Center for Genomic Medicine; Massachusetts General Hospital; Boston Massachusetts

Funder

National Institutes of Health

National Human Genome Research Institute

National Heart, Lung, and Blood Institute

National Eye Institute

National Health and Medical Research Council

Maurice de Rohan International Scholarship

Australian Government Research Training Program Scholarship

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23655/fullpdf

Reference20 articles.

1. Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency;Bone;Genetics in Medicine,2016

2. The matchmaker exchange API: Automating patient matching through the exchange of structured phenotypic and genotypic profiles;Buske;Human Mutation,2015

3. DECIPHER: Database of chromosomal imbalance and phenotype in humans using ensembl resources;Firth;American Journal of Human Genetics,2009

4. PhenoTips: Patient phenotyping software for clinical and research use;Girdea;Human Mutation,2013

5. Dual molecular effects of dominant RORA mutations cause two variants of syndromic intellectual disability with either autism or cerebellar ataxia;Guissart;The American Journal of Human Genetics,2018

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