Harmonizing standards and resources for the medical genome

International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature 409 , 860–921 (2001). Article ADS CAS PubMed Google Scholar Venter, J. C. et al. The sequence of the human genome. Science 291 , 1304–1351 (2001). Article ADS CAS PubMed Google Scholar Goodwin, S., McPherson, J. D. & McCombie, W. R. Coming of age: ten years of next-generation sequencing technologies. Nat. Rev. Genet. 17 , 333–351 (2016). Article CAS PubMed PubMed Central Google Scholar Ashley, E. A. Towards precision medicine. Nat. Rev. Genet. 17 , 507–522 (2016). Article CAS PubMed Google Scholar Ashley, E. A. et al. Clinical assessment incorporating a personal genome. Lancet 375 , 1525–1535 (2010). Article CAS PubMed PubMed Central Google Scholar Dewey, F. E. et al. Clinical interpretation and implications of whole-genome sequencing. J. Am. Med. Assoc. 311 , 1035–1045 (2014). This study evaluated the performance and findings of clinical whole-genome interpretation in an adult cohort, finding incomplete coverage of medically important disease genes, variable concordance for small indels and medically actionable findings in all participants. It established the need for transparent reporting of technical limitations in clinical genomic sequencing precision . Article ADS CAS Google Scholar Martin, A. R. et al. Clinical use of current polygenic risk scores may exacerbate health disparities. Nat. Genet. 51 , 584–591 (2019). …