How the human genome transformed study of rare diseases

Comment

Fowzan S Alkuraya. Nature. 2021 Feb.

. 2021 Feb;590(7845):218-219.

doi: 10.1038/d41586-021-00294-7.

No abstract available

Keywords: Genetics; Genomics; History; Medical research.

Comment on

Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV, Tachmazidou I, Backman JD, Hoffman JD, Liu D, Pandey AK, Gonzaga-Jauregui C, Khalid S, Ye B, Banerjee N, Li AH, O'Dushlaine C, Marcketta A, Staples J, Schurmann C, Hawes A, Maxwell E, Barnard L, Lopez A, Penn J, Habegger L, Blumenfeld AL, Bai X, O'Keeffe S, Yadav A, Praveen K, Jones M, Salerno WJ, Chung WK, Surakka I, Willer CJ, Hveem K, Leader JB, Carey DJ, Ledbetter DH; Geisinger-Regeneron DiscovEHR Collaboration; Cardon L, Yancopoulos GD, Economides A, Coppola G, Shuldiner AR, Balasubramanian S, Cantor M; Regeneron Genetics Center; Nelson MR, Whittaker J, Reid JG, Marchini J, Overton JD, Scott RA, Abecasis GR, Yerges-Armstrong L, Baras A. Van Hout CV, et al. Nature. 2020 Oct;586(7831):749-756. doi: 10.1038/s41586-020-2853-0. Epub 2020 Oct 21. Nature. 2020. PMID: 33087929 Free PMC article.

1. International Human Genome Sequencing Consortium. Nature 409, 860–921 (2001). - DOI
1. Venter, J. C. et al. Science 291, 1304–1351 (2001). - PubMed - DOI
1. Collins, F. S. & McKusick, V. A. J. Am. Med. Assoc. 285, 540–544 (2001). - DOI
1. Chong, J. X. et al. Am. J. Hum. Genet. 97, 199–215 (2015). - PubMed - DOI - PMC
1. Donis-Keller, H. et al. Cell 51, 319–337 (1987). - PubMed - DOI