High levels of RNA-editing site conservation amongst 15 laboratory mouse strains. by Danecek, P, Nellåker, C, McIntyre, R, Buendia-Buendia, J, Bumpstead, S, Ponting, C, Flint, J, Durbin, R, Keane, T, Adams, D

The variant call format and VCFtools. by Danecek, P, Auton, A, Abecasis, G, Albers, C, Banks, E, DePristo, M, Handsaker, R, Lunter, G, Marth, G, Sherry, S, McVean, G, Durbin, R

Reference-based phasing using the Haplotype Reference Consortium panel by Loh, P, Danecek, P, Palamara, P, Fuchsberger, C, A Reshef, Y, K Finucane, H, Schoenherr, S, Forer, L, McCarthy, S, Abecasis, G, Durbin, R, L Price, A

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel by Huang, J, Howie, B, McCarthy, S, Memari, Y, Walter, K, Min, J, Danecek, P, Malerba, G, Trabetti, E, Zheng, H, Gambaro, G, Richards, J, Durbin, R, Timpson, N, Marchini, J, Soranzo, N

Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland by Wright, CF, Campbell, P, Eberhardt, RY, Aitken, S, Perrett, D, Brent, S, Danecek, P, Gardner, EJ, Chundru, VK, Lindsay, SJ, Andrews, K, Hampstead, J, Kaplanis, J, Samocha, KE, Middleton, A, Foreman, J, Hobson, RJ, Parker, MJ, Martin, HC, FitzPatrick, DR, Hurles, ME, Firth, HV

Mouse genomic variation and its effect on phenotypes and gene regulation. by Keane, T, Goodstadt, L, Danecek, P, White, M, Wong, K, Yalcin, B, Heger, A, Agam, A, Slater, G, Goodson, M, Furlotte, N, Eskin, E, Nellåker, C, Whitley, H, Cleak, J, Janowitz, D, Hernandez-Pliego, P, Edwards, A, Belgard, T, Oliver, P, McIntyre, R, Bhomra, A, Nicod, J, Gan, X, Yuan, W

Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations by Chundru, VK, Zhang, Z, Walter, K, Lindsay, SJ, Danecek, P, Eberhardt, RY, Gardner, EJ, Malawsky, DS, Wigdor, EM, Torene, R, Retterer, K, Wright, CF, Ólafsdóttir, H, Guillen Sacoto, MJ, Ayaz, A, Akbeyaz, IH, Türkdoğan, D, Al Balushi, AI, Bertoli-Avella, A, Bauer, P, Szenker-Ravi, E, Reversade, B, McWalter, K, Sheridan, E

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms by Wright, CF, Quaife, NM, Ramos-Hernández, L, Danecek, P, Ferla, MP, Samocha, KE, Kaplanis, J, Gardner, EJ, Eberhardt, RY, Chao, KR, Karczewski, KJ, Morales, J, Gallone, G, Balasubramanian, M, Banka, S, Gompertz, L, Kerr, B, Kirby, A, Lynch, SA, Morton, JEV, Pinz, H, Sansbury, FH, Stewart, H, Zuccarelli, BD, Cook, SA, Taylor, JC, Juusola, J, Retterer, K, Firth, HV, Hurles, ME, Lara-Pezzi, E, Barton, PJR, Whiffin, N

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms by Boldt, K, van Reeuwijk, J, Lu, Q, Koutroumpas, K, Nguyen, T-MT, Texier, Y, van Beersum, SEC, Horn, N, Willer, JR, Mans, DA, Dougherty, G, Lamers, IJC, Coene, KLM, Arts, HH, Betts, MJ, Beyer, T, Bolat, E, Gloeckner, CJ, Haidari, K, Hetterschijt, L, Iaconis, D, Jenkins, D, Klose, F, Knapp, B, Latour, B, Letteboer, SJF, Marcelis, CL, Mitic, D, Morleo, M, Oud, MM, Riemersma, M, Rix, S, Terhal, PA, Toedt, G, van Dam, TJP, de Vrieze, E, Wissinger, Y, Wu, KM, Apic, G, Beales, PL, Blacque, OE, Gibson, TJ, Huynen, MA, Katsanis, N, Kremer, H, Omran, H, van Wijk, E, Wolfrum, U, Kepes, F, Davis, EE, Franco, B, Giles, RH, Ueffing, M, Russell, RB, Roepman, R, Al-Turki, S, Anderson, C, Antony, D, Barroso, I, Bentham, J, Bhattacharya, S, Carss, K, Chatterjee, K, Cirak, S, Cosgrove, C, Danecek, P, Durbin, R, Fitzpatrick, D, Floyd, J, Foley, A, Franklin, C, Futema, M, Humphries, SE, Hurles, M, Joyce, C, McCarthy, S, Mitchison, HM, Muddyman, D, Muntoni, F, O'Rahilly, S, Onoufriadis, A, Payne, F, Plagnol, V, Raymond, L, Savage, DB, Scambler, P, Schmidts, M, Schoenmakers, N, Semple, R, Serra, E, Stalker, J, van Kogelenberg, M, Vijayarangakannan, P, Walter, K, Whittall, R, Williamson, K

Whole‐genome sequencing identifies EN1 as a determinant of bone density and fracture by Zheng, H, Forgetta, V, Hsu, Y-H, Estrada, K, Rosello-Diez, A, Leo, PJ, Dahia, C, Park-Min, K, Tobias, J, Kooperberg, C, Kleinman, A, Styrkarsdottir, U, Liu, C, Uggla, C, Evans, D, Nielson, C, Walter, K, Pettersson-Kymmer, U, McCarthy, S, Eriksson, J, Kwan, T, Jhamai, M, Trajanoska, K, Memari, Y, Min, J, Huang, J, Danecek, P, Wilmot, B, Li, R, Chou, W, Mokry, L, Moayyeri, A, Claussnitzer, M, Cheng, C, Cheung, W, Medina-Gómez, C, Ge, B, Chen, S, Choi, K, Oei, L, Fraser, J, Kraaij, R, Hibbs, M, Gregson, C, Paquette, D, Hofman, A, Wibom, C, Tranah, G, Marshall, M, Gardiner, B, Cremin, K, Auer, P, Hsu, L, Ring, S, Tung, J, Thorleifsson, G, Enneman, A, van Schoor, N, de Groot, L, van der Velde, N, Melin, B, Kemp, J, Christiansen, C, Sayers, A, Zhou, Y, Calderari, S, van Rooij, J, Carlson, C, Peters, U, Berlivet, S, Dostie, J, Uitterlinden, A, Williams, S, Farber, C, Grinberg, D, LaCroix, A, Haessler, J, Chasman, D, Giulianini, F, Rose, L, Ridker, P, Eisman, J, Nguyen, T, Center, J, Nogues, X, Garcia-Giralt, N, Launer, L, Gudnason, V, Mellström, D, Vandenput, L, Amin, N, van Duijn, C, Karlsson, M, Ljunggren, Ö, Svensson, O, Hallmans, G, Rousseau, F, Giroux, S, Bussière, J, Arp, P, Koromani, F, Prince, R, Lewis, J, Langdahl, B, Hermann, A, Jensen, J, Kaptoge, S, Khaw, K, Reeve, J, Formosa, M, Xuereb-Anastasi, A, Åkesson, K, McGuigan, F, Garg, G, Olmos, J, Zarrabeitia, M, Riancho, J, Ralston, S, Alonso, N, Jiang, X, Goltzman, D, Pastinen, T, Grundberg, E, Gauguier, D, Orwoll, E, Karasik, D, Davey-Smith, G, Smith, A, Siggeirsdottir, K, Harris, T, Zillikens, M, van Meurs, J, Thorsteinsdottir, U, Maurano, M, Timpson, N, Soranzo, N, Durbin, R, Wilson, S, Ntzani, E, Brown, M, Stefansson, K, Hinds, D, Spector, T, Cupples, L, Ohlsson, C, Greenwood, C, Jackson, R, Rowe, D, Loomis, C, Evans, D, Ackert-Bicknell, C, Joyner, A, Duncan, E, Kiel, D, Rivadeneira, F, Richards, J