Daniel Lemire's blog

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Important science and technology findings in 2018

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  1. Dave Lawrence says:

    Yet applications of the human genome project have been scarce

    Almost all human DNA sequencing research and diagnostics is downstream of mapping reads to the human genome.

    Eg genotyping or finding variants requires finding the difference of a person vs the genome.

    RNAseq requires mapping reads to the genome then doing stats on how counts fall within regions (eg genes).

    Choice of microarray probes is also made easier with a reference.