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Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project

Title:	Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project
Authors:	Seaby, Eleanor G.^{Aff1, Aff2, Aff3, Aff4, IDs0043902202509x_cor1}; Thomas, N. Simon^{Aff1, Aff5}; Webb, Amy^Aff5; Brittain, Helen^Aff6; Taylor Tavares, Ana Lisa^{Aff6, Aff7}; Baralle, Diana^Aff1; Rehm, Heidi L.^{Aff2, Aff8}; O’Donnell-Luria, Anne^{Aff2, Aff3}; Ennis, Sarah^Aff1; Ambrose, J. C.; Arumugam, P; Bevers, R; Bleda, M; Boardman-Pretty, F; Boustred, C. R.; Brittain, H; Caulfield, M. J.; Chan, G. C.; Fowler, T; Giess, A; Hamblin, A; Henderson, S; Hubbard, T. J. P.; Jackson, R; Jones, L. J.; Kasperaviciute, D; Kayikci, M; Kousathanas, A; Lahnstein, L.; Leigh, S. E. A.; Leong, I. U. S.; Lopez, F. J.; Maleady-Crowe, F; McEntagart, M.; Minneci, F; Moutsianas, L; Mueller, M.; Murugaesu, N; Need, A. C.; O‘Donovan, P.; Odhams, C. A.; Patch, C; Perez-Gil, D; Pereira, M. B.; Pullinger, J; Rahim, T; Rendon, A; Rogers, T; Savage, K; Sawant, K; Scott, R. H.; Siddiq, A; Sieghart, A; Smith, S. C.; Sosinsky, A; Stuckey, A; Tanguy, M; Taylor Tavares, A. L.; Thomas, E. R. A.; Thompson, S. R.; Tucci, A; Welland, M. J.; Williams, E; Witkowska, K; Wood, S. M.
Source:	Human Genetics. 142(3):351-362
Database:	Springer Nature Journals