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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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Rapid clinical diagnostic variant investigation of genomic patient sequencing data with iobio web tools

Alistair Ward1, Mary A Karren1, Tonya Di Sera1

  • 1Department of Human Genetics, USTAR Center for Genetic Discovery, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.

Journal of Clinical and Translational Science
|May 1, 2018
PubMed
Abstract

Keywords:
Genome sequencingclinical diagnostic variant analysisdisease variant identificationearly infantile epileptic encephalopathyweb-based data analysis

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