Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis-Reference-Cited by-同舟云学术

Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

Published:2019-06-28 Issue:1 Volume:10 Page:
ISSN:2041-1723
Container-title:Nature Communications
language:en
Short-container-title:Nat Commun

Author:

Deelen Patrick^ORCID,van Dam Sipko,Herkert Johanna C.^ORCID,Karjalainen Juha M.,Brugge Harm,Abbott Kristin M.^ORCID,van Diemen Cleo C.,van der Zwaag Paul A.,Gerkes Erica H.,Zonneveld-Huijssoon Evelien^ORCID,Boer-Bergsma Jelkje J.,Folkertsma Pytrik,Gillett Tessa,van der Velde K. Joeri,Kanninga Roan,van den Akker Peter C.,Jan Sabrina Z.,Hoorntje Edgar T.,te Rijdt Wouter P.^ORCID,Vos Yvonne J.,Jongbloed Jan D. H.,van Ravenswaaij-Arts Conny M. A.,Sinke Richard,Sikkema-Raddatz Birgit,Kerstjens-Frederikse Wilhelmina S.^ORCID,Swertz Morris A.^ORCID,Franke Lude^ORCID

Funder

University of Groningen

Publisher

Springer Science and Business Media LLC

Subject

General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry

Link

http://www.nature.com/articles/s41467-019-10649-4.pdf

Reference57 articles.

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3. Smedley, D. & Robinson, P. N. Phenotype-driven strategies for exome prioritization of human Mendelian disease genes. Genome Med. 7, 81 (2015).