Single haplotype assembly of the human genome from a hydatidiform mole

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Figure 2.
Figure 2.

(A) WGS assembly from the first pass (CHM1_1.0; GCF_000306695.1, bronze line) on Chromosome 1p12 (NC_018912.1: 121,050,000-121,400,000) demonstrated a gap (gray box) in the assembly (assembly name: AMYH010000980.1, green lines). Using MEGABLAST, two CH17 clones (AC247039.2 and AC253572.3, red lines) aligned to the region and appeared to span the gap. (B) By incorporating these BAC sequences into the assembly, the gap was subsequently resolved in CHM1_1.1 (NC_018912.2: 121,050,000–121,650,000). The tiling path components, FP325311.11, AC241952.2, AC247039.2, AC253572.3, and AC241377.3 indicate the clone names used to resolve the gap. The clones from A are indicated in red while the other clones are in purple. The final assembly–assembly alignment is indicated in purple, showing the gap resolution.

This Article

  1. Genome Res. 24: 2066-2076

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