SeqHBase specifications

Information


Unique identifier OMICS_07580
Name SeqHBase
Software type Framework/Library
Interface Command line interface
Restrictions to use Academic or non-commercial use
Operating system Unix/Linux
Parallelization MapReduce
Computer skills Advanced
Stability Stable
High performance computing Yes
Maintained Yes

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Maintainer


  • person_outline Max He <>

Publication for SeqHBase

SeqHBase in publications

 (2)
PMCID: 5343946
PMID: 28212287
DOI: 10.3390/ijms18020412

[…] de novo mutations [,,]. meanwhile, family-based research strategies can uncover many mutations that may be contributing to recessive, inherited as homozygous or compound heterozygous diseases. seqhbase [] is a reliable and scalable computational program that manipulates genome-wide variants, functional annotations and every-site coverage, and analyzes wgs/wes data to identify […]

PMCID: 4955563
PMID: 27195526
DOI: 10.1155/2016/3617572

[…] to infer biological insights from massive amounts of ngs data and comprehensive clinical data in a short period of time, we have developed an analysis pipeline within a software framework called seqhbase [] () to quickly identify disease- or drug-associated genetic variants. there were more than 27 million unique variants among 300 patients with wgs data that we analyzed using seqhbase. […]


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SeqHBase institution(s)
Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, WI, USA; Biomedical Informatics Research Center, Marshfield Clinic Research Foundation, Marshfield, WI, USA; Department of Computation and Informatics in Biology and Medicine, University of Wisconsin-Madison, Madison, WI, USA; Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, WI, USA; College of Science and Engineering, University of Minnesota-Twin Cities, MN, Minnesota, USA; Department of Medical Genetics Services, Marshfield Clinic, Marshfield, WI, USA; The Research Institute at Nationwide Children's Hospital, Columbus, OH,USA; Cold Spring Harbor Laboratory, Stanley Institute for Cognitive Genomics, Cold Spring Harbor, NY, USA; Utah Foundation for Biomedical Research, Provo, UT, USA; Zilkha Neurogenetic Institute, University of Southern California, Los Angeles, CA, USA; Department of Psychiatry, University of Southern California, Los Angeles, CA, USA

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