A pipeline‐friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature-Reference-Cited by-同舟云学术

A pipeline‐friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature

Published:2020-08-10 Issue:1 Volume:1 Page:
ISSN:2641-6573
Container-title:Advanced Genetics
language:en
Short-container-title:Advanced Genetics

Author:

Velde K. Joeri¹²,Hoek Sander¹,Dijk Freerk¹²³,Hendriksen Dennis¹,Diemen Cleo C.²,Johansson Lennart F.¹²,Abbott Kristin M.²,Deelen Patrick¹²,Sikkema‐Raddatz Birgit²,Swertz Morris A.¹²

Affiliation:

1. Genomics Coordination Center University of Groningen and University Medical Center Groningen Groningen The Netherlands

2. Department of Genetics University of Groningen and University Medical Center Groningen Groningen The Netherlands

3. Prinses Maxima Center for Child Oncology Utrecht The Netherlands

Funder

Nederlandse Organisatie voor Wetenschappelijk Onderzoek

Publisher

Wiley

Subject

Genetics,Molecular Biology,Biochemistry

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ggn2.10023

Reference56 articles.

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4. Paediatric genomics: diagnosing rare disease in children

5. The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study

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