Title
Group-based variant calling leveraging next-generation supercomputing for large-scale whole-genome sequencing studies
Abstract
Next-generation sequencing (NGS) technologies have become much more efficient, allowing whole human genomes to be sequenced faster and cheaper than ever before. However, processing the raw sequence reads associated with NGS technologies requires care and sophistication in order to draw compelling inferences about phenotypic consequences of variation in human genomes. It has been shown that different approaches to variant calling from NGS data can lead to different conclusions. Ensuring appropriate accuracy and quality in variant calling can come at a computational cost.
Year
DOI
Venue
2015
10.1186/s12859-015-0736-4
BMC Bioinformatics
Keywords
Field
DocType
Variant calling, Supercomputing, Whole-genome sequencing
Biology,Supercomputer,Genomics,Whole genome sequencing,Genome human,Human genome,Bioinformatics,Genetics,Workflow,Big data,Computing systems
Journal
Volume
Issue
ISSN
16
1
1471-2105
Citations 
PageRank 
References 
1
0.37
4
Authors
14