The 100,000 genomes pilot on rare disease diagnosis in healthcare – a preliminary report by Smedley, D, Smith, KR, Rueda Martin, A, Buchanan, J, Wordsworth, S, de Burca, A, Davies, J, Crichton, C, Welch, J, Woods, K, Campbell, C, Camps, C, Gibson, K, Lester, T, Patel, S, Roy, NBA, Sen, A, Németh, AH, Taylor, J, Caulfield, M

Human genetics uncovers MAP3K15 as an obesity-independent therapeutic target for diabetes by Nag, A, Dhindsa, RS, Mitchell, J, Vasavda, C, Harper, AR, Vitsios, D, Ahnmark, A, Bilican, B, Madeyski-Bengtson, K, Zarrouki, B, Zoghbi, AW, Wang, Q, Smith, KR, Alegre-Díaz, J, Kuri-Morales, P, Berumen, J, Tapia-Conyer, R, Emberson, J, Torres, JM, Collins, R, Smith, DM, Challis, B, Paul, DS, Bohlooly-Y, M, Snowden, M, Baker, D, Fritsche-Danielson, R, Pangalos, MN, Petrovski, S

Germline selection shapes human mitochondrial DNA diversity by Wei, W, Tuna, S, Keogh, MJ, Smith, KR, Aitman, TJ, Beales, PL, Bennett, DL, Gale, DP, Bitner-Glindzicz, MAK, Black, GC, Brennan, P, Elliott, P, Flinter, FA, Floto, RA, Houlden, H, Irving, M, Koziell, A, Maher, ER, Markus, HS, Morrell, NW, Newman, WG, Roberts, I, Sayer, JA, Smith, KGC, Taylor, JC, Watkins, H, Webster, AR, Wilkie, AOM, Williamson, C, NIHR BioResource–Rare Diseases, 100,000 Genomes Project–Rare Diseases Pilot, Ashford, S, Penkett, CJ, Stirrups, KE, Rendon, A, Ouwehand, WH, Bradley, JR, Raymond, FL, Caulfield, M, Turro, E, Chinnery, PF

Genotyping, sequencing and analysis of 140,000 adults from Mexico City by Ziyatdinov, A, Torres, J, Alegre-Díaz, J, Backman, J, Mbatchou, J, Turner, M, Gaynor, SM, Joseph, T, Zou, Y, Liu, D, Wade, R, Staples, J, Panea, R, Popov, A, Bai, X, Balasubramanian, S, Habegger, L, Lanche, R, Lopez, A, Maxwell, E, Jones, M, García-Ortiz, H, Ramirez-Reyes, R, Santacruz-Benítez, R, Nag, A, Smith, KR, Damask, A, Lin, N, Paulding, C, Reppell, M, Zöllner, S, Jorgenson, E, Salerno, W, Petrovski, S, Overton, J, Reid, J, Thornton, TA, Abecasis, G, Berumen, J, Orozco-Orozco, L, Collins, R, Baras, A, Hill, MR, Emberson, JR, Marchini, J, Kuri-Morales, P, Tapia-Conyer, R