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Reference genome hg18. RD genotyping; trio phasing 94% phased. Fosmid sequenced deletions: 44. 33 events. July 30, 2010. Fosmid sequenced insertions: ~26. Phasing?. Released 1000 Genomes insertions: 97. Phasing?. Released 1000 Genomes deletions: 1,522. Trio phasing 77% phased
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Reference genome hg18 RD genotyping; trio phasing 94% phased Fosmid sequenced deletions: 44 33 events July 30, 2010 Fosmid sequenced insertions: ~26 Phasing? Released 1000 Genomes insertions: 97 Phasing? Released 1000 Genomes deletions: 1,522 Trio phasing 77% phased 15% inconsistent 1,522 events Randomly choosing haplotype for unphased events Released 1000 Genomes indels: 328,528 Trio phasing 89% phased 328,528 events Released 1000 Genomes phased SNPs: 2,766,607 89% phased • 3,962,637 (0.14%) different bases in paternal allele • 3,947,162 (0.14%) different bases in maternal allele NA12878 diploid genome