Homer, Nils Tembe, Waibhav D Szelinger, Szabolcs Redman, Margot Stephan, Dietrich A Pearson, John V Nelson, Stanley F Craig, David
Published in
Bioinformatics (Oxford, England)
For many genome-wide association (GWA) studies individually genotyping one million or more SNPs provides a marginal increase in coverage at a substantial cost. Much of the information gained is redundant due to the correlation structure inherent in the human genome. Pooling-based GWA studies could benefit significantly by utilizing this redundancy ...
Danecek, Petr Auton, Adam Abecasis, Goncalo Albers, Cornelis A Banks, Eric DePristo, Mark A Handsaker, Robert E Lunter, Gerton Marth, Gabor T Sherry, Stephen T
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Published in
Bioinformatics (Oxford, England)
The variant call format (VCF) is a generic format for storing DNA polymorphism data such as SNPs, insertions, deletions and structural variants, together with rich annotations. VCF is usually stored in a compressed manner and can be indexed for fast data retrieval of variants from a range of positions on the reference genome. The format was develop...
