Rare and Common Variants Detection in Next Generation Sequencing
SNVer is a statistical tool for calling common and rare variants in analysis of pool or individual next-generation sequencing data.
It reports one single overall p-value for evaluating the significance of a candidate locus being a variant, based on which
multiplicity control can be obtained. Loci with any (low) coverage can be tested and depth of coverage will be
quantitatively factored into final significance calculation. SNVer runs very fast,
making it feasible for analysis of whole-exome sequencing data, or even whole-genome sequencing data.
Wei Z, Wang W, Hu P, Lyon GJ and Hakonarson H. SNVer:
a statistical tool for variant calling in analysis of pooled or
individual next-generation sequencing data, Nucleic Acids Research 2011,