An informatics approach to analyzing the incidentalome | Zendy

Jonathan S. Berg | Zendy; Michael C. C. Adams | Zendy; Nassib Nassar | Zendy; Chris Bizon | Zendy; Kristy Lee | Zendy; Charles Schmitt | Zendy; Kirk C. Wilhelmsen | Zendy; James P. Evans | Zendy

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An informatics approach to analyzing the incidentalome

Author(s) -

Jonathan S. Berg,

Michael C. C. Adams,

Nassib Nassar,

Chris Bizon,

Kristy Lee,

Charles Schmitt,

Kirk C. Wilhelmsen,

James P. Evans

Publication year - 2012

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2012.112

Subject(s) - computer science , workflow , context (archaeology) , genomics , data science , informatics , scalability , missense mutation , correctness , medicine , computational biology , mutation , genome , genetics , gene , biology , algorithm , paleontology , database , electrical engineering , engineering

Next-generation sequencing has transformed genetic research and is poised to revolutionize clinical diagnosis. However, the vast amount of data and inevitable discovery of incidental findings require novel analytic approaches. We therefore implemented for the first time a strategy that utilizes an a priori structured framework and a conservative threshold for selecting clinically relevant incidental findings.

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