PriVar: a toolkit for prioritizing SNVs and indels from next-generation sequencing data

Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease

(2012) H Mao et al.   GENES AND IMMUNITY

Homozygosity mapping on a single patient-identification of homozygous regions of recent common ancestry by using population data

(2011) Lu Zhang et al.   HUMAN MUTATION

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

A navigator for human genome epidemiology

(2008) Wei Yu et al.   NATURE GENETICS