SeqHBase: a big data toolset for family based sequencing data analysis

201518 citationsJournal Articlehybrid Open Access

Authors

Min He · University of Wisconsin–Madison

Thomas N. Person · Marshfield Clinic

Scott J. Hebbring · Center for Human Genetics

Ethan P. Heinzen · University of Minnesota

Zhan Ye · Marshfield Clinic

Steven J. Schrodi · Center for Human Genetics

Elizabeth McPherson ·

Abstract

These results demonstrate SeqHBase's high efficiency and scalability, which is necessary as WGS and WES are rapidly becoming standard methods to study the genetics of familial disorders.

Topics & Keywords

Genomics and Rare Diseases Genomics and Phylogenetic Studies Cancer Genomics and Diagnostics

Publication Details

Published in: Journal of Medical Genetics

Volume 52, Issue 4, pp. 282-288

DOI: 10.1136/jmedgenet-2014-102907

Field-Weighted Citation Impact: 2.72

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SeqHBase: a big data toolset for family based sequencing data analysis

Authors

Abstract

Topics & Keywords

Publication Details