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in two pilot projects targeting whole human genomes 33 (Supplementary Table 1). These studies comprise a population-scale project, termed ‘low-coverage project’, in which 179 unrelated individuals were sequenced with an average coverage of 3.63, including 59 Yoruba individuals from Nigeria (YRI), 60 individuals of European ancestry from Utah (CEU), 30 of Han ancestry from Beijing (CHB), and 30 of Japanese ancestry from Tokyo (JPT; the latter two were jointly analysed as JPT1CHB). In addition, a high-coverage project, termed the ‘trio project’, was carried out, with individuals of a CEU and a YRI parent-offspring trio sequenced to 423 coverage on average. We report here the results of analyses undertaken by the Structural Variation Analysis Group of the 1000GP. The group’s objectives were to discover, assemble, genotype and validate SVs of 50 base pairs (bp) and larger in size, and to assess and compare different sequence-based SV detection approaches. The focus of the group was initially o

Year: 2013
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