Evidence for 28 genetic disorders discovered by combining healthcare and research data

J. Kaplanis, K.E. Samocha, L. Wiel, Z.C. Zhang, K.J. Arvai, R.Y. Eberhardt, G. Gallone, S.H. Lelieveld, H.C. Martin, J.F. McRae, P.J. Short, R.I. Torene, E. de Boer, P. Danecek, E.J. Gardner, N. Huang, J. Lord, I. Martincorena, R. Pfundt, M.R.F. ReijndersA. Yeung, H.G. Yntema, L.E.L.M. Vissers, J. Juusola, C.F. Wright, H.G. Brunner, H.V. Firth, D.R. FitzPatrick, J.C. Barrett, M.E. Hurles, C. Gilissen, K. Retterer, D.e.v. Deciphering, Deciphering Developmental Disorders Study

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)757-+
Number of pages10
JournalNature
Volume586
Issue number7831
DOIs
Publication statusPublished - 29 Oct 2020

Keywords

  • cancer
  • mutations
  • protein-truncating variants
  • selection
  • MUTATIONS
  • SELECTION
  • CANCER
  • PROTEIN-TRUNCATING VARIANTS

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