Web Resources
The URLs for data presented herein are as follows:1000 Genomes, http://www.1000genomes.org
Ensembl, http://www.ensembl.org/index.html
European Nucleotide Archive, http://www.ebi.ac.uk/ena
HUGO Gene Nomenclature Committee, http://www.genenames.org/
Ingenuity Pathway Analysis, http://www.ingenuity.com
NCBI2R, http://cran.r-project.org/src/contrib/Archive/NCBI2R/
OMIM, http://omim.org
Picard 1.112, http://broadinstitute.github.io/picard/
UCSC Human Genome Browser, http://genome.ucsc.edu/cgi-bin/hgGateway
VCFtools, http://vcftools.sourceforge.net/