Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases | Zendy

Damian Smedley | Zendy; Sebastian Köhler | Zendy; Johanna Christina Czeschik | Zendy; Joanna Amberger | Zendy; Carol Bocchini | Zendy; Ada Hamosh | Zendy; Julian Veldboer | Zendy; Tomasz Żemojtel | Zendy; Peter N. Robinson | Zendy

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Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases

Author(s) -

Damian Smedley,

Sebastian Köhler,

Johanna Christina Czeschik,

Joanna Amberger,

Carol Bocchini,

Ada Hamosh,

Julian Veldboer,

Tomasz Żemojtel,

Peter N. Robinson

Publication year - 2014

Publication title -

bioinformatics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/btu508

Subject(s) - genetics , exome sequencing , gene , exome , computational biology , candidate gene , biology , omim : online mendelian inheritance in man , mendelian inheritance , bioinformatics , mutation , phenotype

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.

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