30th December 2018, 1 min read Important science and technology findings in 2018 One thought on “Important science and technology findings in 2018” Dave Lawrence says: December 30, 2018 at 9:18 pm 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.
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.