Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease-Reference-Cited by-同舟云学术

Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease

Published:2022-04-27 Issue:8 Volume:43 Page:1071-1081
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Jacobsen Julius O. B.¹,Kelly Catherine¹,Cipriani Valentina¹,Research Consortium Genomics England²,Mungall Christopher J.³,Reese Justin³,Danis Daniel⁴,Robinson Peter N.⁴^ORCID,Smedley Damian¹^ORCID

Affiliation:

1. William Harvey Research Institute, Charterhouse Square, Barts and the London School of Medicine and Dentistry Queen Queen Mary University of London London UK

2. Genomics England, London UK

3. Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory Berkeley California USA

4. The Jackson Laboratory for Genomic Medicine Farmington Connecticut USA

Funder

National Institutes of Health

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24380

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5. OVA: Integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization;Antanaviciute A.;Bioinformatics,2015

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