Published in
Oxford University Press (OUP), Bioinformatics, 22(30), p. 3215-3222
DOI: 10.1093/bioinformatics/btu508
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- [www.ncbi.nlm.nih.gov] | PDF
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Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases
Journal article published in 2014 by
Damian Smedley,
Sebastian Köhler 
,
Johanna Christina Czeschik,
Joanna Amberger,
Carol Bocchini,
Ada Hamosh,
Julian Veldboer,
Tomasz Zemojtel,
Peter N. Robinson
,
Johanna Christina Czeschik,
Joanna Amberger,
Carol Bocchini,
Ada Hamosh,
Julian Veldboer,
Tomasz Zemojtel,
Peter N. Robinson
This paper is made freely available by the publisher.
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Abstract
Motivation: Whole-exome sequencing (WES) has opened up previously unheard of possibilities for identifying novel disease genes in Mendelian disorders, only about half of which have been elucidated to date. However, interpretation of WES data remains challenging.