So far the focus has been on the 1.5 % of the genome that is coding, in spite of the fact that the great majority of genomic variants fall outside the coding regions. (ashg.org)
But understanding what specific genomic variants do and how they influence the development of disease has been much more difficult to pinpoint. (genome.gov)
«At this time people can find useful information [within publications] much better than machines,» says Mike Cherry, a biologist at Stanford University in Palo Alto, California, who is involved with ClinGen, an NIH - funded curation project to build a database of genomic variants in precision medicine and research. (sciencemag.org)