BioGranat-IG: a network analysis tool to suggest mechanisms of genetic heterogeneity from exome-sequencing data | Zendy

Nick Dand | Zendy; Frauke Sprengel | Zendy; Volker Ahlers | Zendy; Thomas Schlitt | Zendy

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BioGranat-IG: a network analysis tool to suggest mechanisms of genetic heterogeneity from exome-sequencing data

Author(s) -

Nick Dand,

Frauke Sprengel,

Volker Ahlers,

Thomas Schlitt

Publication year - 2013

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/btt045

Subject(s) - exome sequencing , exome , computational biology , penetrance , biology , genetics , genetic heterogeneity , gene , computer science , mutation , phenotype

Recent exome-sequencing studies have successfully identified disease-causing sequence variants for several rare monogenic diseases by examining variants common to a group of patients. However, the current data analysis strategies are only insufficiently able to deal with confounding factors such as genetic heterogeneity, incomplete penetrance, individuals lacking data and involvement of several genes.

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