Skip to main content
. Author manuscript; available in PMC: 2010 Sep 12.
Published in final edited form as: Lancet. 2010 May 1;375(9725):1525–1535. doi: 10.1016/S0140-6736(10)60452-7

Figure 2.

Figure 2

Approach to rare or novel variants

See text for details. GVS - Genome Variation Server25; SIFT - Sorting Intolerant From Tolerant26; HGMD – Human Gene Mutation27; Polyphen – POLYmorphism PHENotyping28; HGVS – Human genome variation society29; ARVC Database13; mtSNP - mtSNP: a database of human mitochondrial genome polymorphisms30; UniProt - UNIversal PROTein Resource31; PolyDom – a whole genome database for the identification of non-synonymous coding SNPs with the potential to impact disease32; OMIM -Online Mendelian Inheritance in Man, OMIM33.