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  • Whole genome coverage

    What is the average coverage with good quality of whole genome sequence in read numbers (100 bp/read) and base pairs?

    Thanks,
    Thanks,

  • #2
    Comments on a recent paper that applied very deep whole-genome sequencing of a patient's genome, with findings on the number of variants to be found and the amount of sequencing depth required.


    Based on these experiments and their callability calculations, the authors estimate that generating 50x mapped coverage (60x before read mapping/filtering are applied) renders ~95% of the genome and ~81% of the exome callable. Intriguingly, however, the authors note that they’d sequenced an unrelated sample using the latest HiSeq chemistry and basecalling software, achieving the same level of callability with just 35x mapped coverage. If anything, this emphasizes that (as the authors suggest), a “callability” metric is far more informative to report when describing the resequencing of human genomes.

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