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Anatomy of whole-genome assembly.


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Anatomy of whole-genome assembly.
In whole-genome assembly, the BAC fragments (red line segments) and the reads from five individuals (black line segments) are combined to produce a contig and a consensus sequence (green line). The contigs are connected into scaffolds, shown in red, by pairing end sequences, which are also called mates. If there is a gap between consecutive contigs, it has a known size. Next, the scaffolds are mapped to the genome (gray line) using sequence tagged site (STS) information, represented by blue stars.

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Thanks to the Human Genome Project, researchers have sequenced all 3.2 billion base pairs in the human genome. How did researchers complete this chromosome map years ahead of schedule?

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