Whole-genome sequencing of an Irish person revealshundreds of thousands of novel genomic variants.Imputation using previous known informationimproves the accuracy of low-read-depth sequencing. In the past 10 years, numerous human genomic variantshave been discovered and catalogued, mostly through theefforts of the International HapMap project and personalgenome studies [1]. Information on human genomicvariants may serve as a valuable resource for developingpersonalized medicine because some of these variantscould potentially predispose humans to complexdiseases. The 2009 version (version 130) of the dbSNPdatabase included approximately 13.9 million (13.9M)single nucleotide polymorphisms (SNPs) and 4.5M smallinsertions and deletions (indels). However, many issuesneed to be addressed before personalized medicinebecomes a reality. These include an understanding of: thekind and number of variants that exist in the entirehuman genome; the number of populations andindividuals needed to detect most, if not all, humangenomic variants with efficiency and accuracy; thefrequency of common and rare variants in an individualgenome; and finally the number of variants that influencehuman diseases.
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