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Chunk #21 — Results — Overview of data generation, alignment and variant discovery — Mitochondrial and Y chromosome sequences

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A map of human genome variation from population-scale sequencing.
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The Y chromosome was sequenced at an average depth of 1.8x in the 77 males in the low coverage project, and 15.2x depth in the two trio fathers. Using customized analysis methods (Supplementary Information), we identified 2,870 variable sites, 74% novel, with 55/56 passing independent validation. The Y chromosome phylogeny derived from the new variants identified novel, well supported clades within some of the 12 major haplogroups represented among the samples (e.g., O2b in China and Japan; Supplementary Fig. 7). A striking pattern indicative of a recent rapid expansion specific to haplogroup R1b was observed, consistent with the postulated Neolithic origin of this haplogroup in Europe22.