Low-pass Genomewide Sequencing and Variant Imputation Using Identity-by-descent in an Isolated Human Population

Autor: Gusev, A, Shah, MJ, Kenny, EE, Ramachandran, A, Lowe, JK, Salit, J, Lee, CC, Levandowsky, EC, Weaver, TN, Doan, QC, Peckham, HE, McLaughlin, SF, Lyons, MR, Sheth, VN, Stoffel, M, De La Vega, FM, Friedman, JM, Breslow, JL, Pe'er, I

Whole-genome sequencing in an isolated population with few founders directly ascertains variants from the population bottleneck that may be rare elsewhere. In such populations, shared haplotypes allow imputation of variants in unsequenced samples wit

Externí odkaz: http://arxiv.org/abs/1102.3720

Large-Scale Uniform Analysis of Cancer Whole Genomes in Multiple Computing Environments

Autor: Tijanic N, Solomon Shorser, Rosenberg Mw, Mijalkovic S, Byrne Nj, André Kahles, Rolf Kabbe, Larsson Omberg, Jules Kerssemakers, Olivier Harismendy, Romina Royo, Michael Heinold, Francis Ouellette B, Jonas Demeulemeester, Zhao Chen, Satoru Miyano, Peter J. Campbell, Short C, Ocana D, Oliver Hofmann, Raine Km, April E. Williams, Hong Jh, Mihaiescu Gl, Adam Butler, Denis Yuen, Jongsun Jung, Sergei Yakneen, Kovacevic M, Carolyn M. Hutter, Miyoshi N, Vicente D, Hidewaki Nakagawa, Steven Newhouse, Manuel Prinz, Andy Cafferkey, Johannes Werner, Yong Ho Kim, Nicholson J, Esther Rheinbay, Matthias Schlesner, David Torrents, Ivkovic S, Sung-Hoon Cho, Joachim Weischenfeldt, Lazic Am, Jeon S, Thomas J. Hudson, Julian M. Hess, Fayzullaev N, Nahal Hk, Gad Getz, Peter Van Loo, Dimitri Livitz, Perry, Ivo Buchhalter, Rodriguez Jb, Nagarajan Paramasivam, Michelle Dow, Young-Choon Woo, Ignaty Leshchiner, Paul Flicek, Robert L. Grossman, Jonathan Spring, Jeremiah Wala, Roland Eils, Grace Tiao, Kyle Ellrott, Angela N. Brooks, Heidi J. Sofia, Josep Lluís Gelpí, Barbara Hutter, Francesco Favero, Brian O'Connor, Lucila Ohno-Machado, Peter Clapham, Nastic M, Choi W, De La Vega Fm, L. J. Dursi, Montserrat Puiggròs, Ohi K, Wei Jiao, Brandi N. Davis-Dusenbery, Qian Xiang, Adam J Struck, Gibson B, Ferretti, Claudiu Farcas, Koscher M, Koures A, Lincoln Stein, Keith A. Boroevich, Jan O. Korbel, Gordon Saksena, Radovic P, Christian Lawerenz, Alex Buchanan, Christina K. Yung, Adam Wright, Nuno A. Fonseca, Todd Pihl, Jae H. Kim, Zhining Wang, Boyce R, Miguel Vazquez, Jürgen Eils, Kim H, Junjun Zhang, Seiya Imoto, Kortine Kleinheinz, Daniel Huebschmann

The International Cancer Genome Consortium (ICGC)’s Pan-Cancer Analysis of Whole Genomes (PCAWG) project aimed to categorize somatic and germline variations in both coding and non-coding regions in over 2,800 cancer patients. To provide this datase

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c90d76ea28cb1ca5039f28a82651baec

An integrated map of genetic variation from 1,092 human genomes

Autor: Altshuler, DM, Durbin, RM, Abecasis, GR, Bentley, DR, Chakravarti, A, Clark, AG, Donnelly, P, Eichler, EE, Flicek, P, Gabriel, SB, Gibbs, RA, Green, ED, Hurles, ME, Knoppers, BM, Korbel, JO, Lander, ES, Lee, C, Lehrach, H, Mardis, ER, Marth, GT, McVean, GA, Nickerson, DA, Schmidt, JP, Sherry, ST, Wang, J, Wilson, RK, Dinh, H, Kovar, C, Lee, S, Lewis, L, Muzny, D, Reid, J, Wang, M, Fang, X, Guo, X, Jian, M, Jiang, H, Jin, X, Li, G, Li, J, Li, Y, Li, Z, Liu, X, Lu, Y, Ma, X, Su, Z, Tai, S, Tang, M, Wang, B, Wang, G, Wu, H, Wu, R, Yin, Y, Zhang, W, Zhao, J, Zhao, M, Zheng, X, Zhou, Y, Gupta, N, Clarke, L, Leinonen, R, Smith, RE, Zheng-Bradley, X, Grocock, R, Humphray, S, James, T, Kingsbury, Z, Sudbrak, R, Albrecht, MW, Amstislavskiy, VS, Borodina, TA, Lienhard, M, Mertes, F, Sultan, M, Timmermann, B, Yaspo, M-L, Fulton, L, Fulton, R, Weinstock, GM, Balasubramaniam, S, Burton, J, Danecek, P, Keane, TM, Kolb-Kokocinski, A, McCarthy, S, Stalker, J, Quail, M, Davies, CJ, Gollub, J, Webster, T, Wong, B, Zhan, Y, Auton, A, Yu, F, Bainbridge, M, Challis, D, Evani, US, Lu, J, Nagaswamy, U, Sabo, A, Wang, Y, Yu, J, Coin, LJM, Fang, L, Li, Q, Lin, H, Liu, B, Luo, R, Qin, N, Shao, H, Xie, Y, Ye, C, Yu, C, Zhang, F, Zheng, H, Zhu, H, Garrison, EP, Kural, D, Lee, W-P, Leong, WF, Ward, AN, Wu, J, Zhang, M, Griffin, L, Hsieh, C-H, Mills, RE, Shi, X, Von Grotthuss, M, Zhang, C, Daly, MJ, DePristo, MA, Banks, E, Bhatia, G, Carneiro, MO, Del Angel, G, Genovese, G, Handsaker, RE, Hartl, C, McCarroll, SA, Nemesh, JC, Poplin, RE, Schaffner, SF, Shakir, K, Yoon, SC, Lihm, J, Makarov, V, Jin, H, Kim, W, Kim, KC, Rausch, T, Beal, K, Cunningham, F, Herrero, J, McLaren, WM, Ritchie, GRS, Gottipati, S, Keinan, A, Rodriguez-Flores, JL, Sabeti, PC, Grossman, SR, Tabrizi, S, Tariyal, R, Cooper, DN, Ball, EV, Stenson, PD, Barnes, B, Bauer, M, Cheetham, RK, Cox, T, Eberle, M, Kahn, S, Murray, L, Peden, J, Shaw, R, Ye, K, Batzer, MA, Konkel, MK, Walker, JA, MacArthur, DG, Lek, M, Herwig, R, Shriver, MD, Bustamante, CD, Byrnes, JK, De la Vega, FM, Gravel, S, Kenny, EE, Kidd, JM, Lacroute, P, Maples, BK, Moreno-Estrada, A, Zakharia, F, Halperin, E, Baran, Y, Craig, DW, Christoforides, A, Homer, N, Izatt, T, Kurdoglu, AA, Sinari, SA, Squire, K, Xiao, C, Sebat, J, Bafna, V, Burchard, EG, Hernandez, RD, Gignoux, CR, Haussler, D, Katzman, SJ, Kent, WJ, Howie, B, Ruiz-Linares, A, Dermitzakis, ET, Lappalainen, T, Devine, SE, Maroo, A, Tallon, LJ, Rosenfeld, JA, Michelson, LP, Kang, HM, Anderson, P, Angius, A, Bigham, A, Blackwell, T, Busonero, F, Cucca, F, Fuchsberger, C, Jones, C, Jun, G, Lyons, R, Maschio, A, Porcu, E, Reinier, F, Sanna, S, Schlessinger, D, Sidore, C, Tan, A, Trost, MK, Awadalla, P, Hodgkinson, A, Lunter, G, Marchini, JL, Myers, S, Churchhouse, C, Delaneau, O, Gupta-Hinch, A, Iqbal, Z, Mathieson, I, Rimmer, A, Xifara, DK, Oleksyk, TK, Fu, Y, Xiong, M, Jorde, L, Witherspoon, D, Xing, J, Browning, BL, Alkan, C, Hajirasouliha, I, Hormozdiari, F, Ko, A, Sudmant, PH, Chen, K, Chinwalla, A, Ding, L, Dooling, D, Koboldt, DC, McLellan, MD, Wallis, JW, Wendl, MC, Zhang, Q, Tyler-Smith, C, Albers, CA, Ayub, Q, Chen, Y, Coffey, AJ, Colonna, V, Huang, N, Jostins, L, Li, H, Scally, A, Walter, K, Xue, Y, Zhang, Y, Gerstein, MB, Abyzov, A, Balasubramanian, S, Chen, J, Clarke, D, Habegger, L, Harmanci, AO, Jin, M, Khurana, E, Mu, XJ, Sisu, C, Degenhardt, J, Stuetz, AM, Church, D, Michaelson, JJ, Ben, B, Lindsay, SJ, Ning, Z, Frankish, A, Harrow, J, Fowler, G, Hale, W, Kalra, D, Barker, J, Kelman, G, Kulesha, E, Radhakrishnan, R, Roa, A, Smirnov, D, Streeter, I, Toneva, I, Vaughan, B, Ananiev, V, Belaia, Z, Beloslyudtsev, D, Bouk, N, Chen, C, Cohen, R, Cook, C, Garner, J, Hefferon, T, Kimelman, M, Liu, C, Lopez, J, Meric, P, O'Sullivan, C, Ostapchuk, Y, Phan, L, Ponomarov, S, Schneider, V, Shekhtman, E, Sirotkin, K, Slotta, D, Zhang, H, Barnes, KC, Beiswanger, C, Cai, H, Cao, H, Gharani, N, Henn, B, Jones, D, Kaye, JS, Kent, A, Kerasidou, A, Mathias, R, Ossorio, PN, Parker, M, Reich, D, Rotimi, CN, Royal, CD, Sandoval, K, Su, Y, Tian, Z, Tishkoff, S, Toji, LH, Via, M, Yang, H, Yang, L, Zhu, J, Bodmer, W, Bedoya, G, Ming, CZ, Yang, G, You, CJ, Peltonen, L, Garcia-Montero, A, Orfao, A, Dutil, J, Martinez-Cruzado, JC, Brooks, LD, Felsenfeld, AL, McEwen, JE, Clemm, NC, Duncanson, A, Dunn, M, Guyer, MS, Peterson, JL

Publikováno v: Nature
Nature, Vol. 491, No 7422 (2012) pp. 56-65
Dipòsit Digital de la UB
Universidad de Barcelona
Nature: international weekly journal of science
Recercat. Dipósit de la Recerca de Catalunya
instname
Genome Biology

By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here we describe the genomes of 1,092 individuals from 1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82ca5122d8c3abb786fb2df1c7f65284
https://serval.unil.ch/resource/serval:BIB_5BC1B19DB11D.P001/REF.pdf

Patterns of linkage disequilibrium between SNPs in a Sardinian population isolate

Autor: Angius A, Hyland FC, Persico I, Pirastu N, Woodage T, Pirastu M, De la Vega FM.

Publikováno v: Human heredity 65(1) (2008): 9–22.
info:cnr-pdr/source/autori:Angius A, Hyland FC, Persico I, Pirastu N, Woodage T, Pirastu M, De la Vega FM./titolo:Patterns of linkage disequilibrium between SNPs in a Sardinian population isolate/doi:/rivista:Human heredity/anno:2008/pagina_da:9/pagina_a:22/intervallo_pagine:9–22/volume:65(1)

In isolated populations, 'background' linkage disequilibrium (LD) has been shown to extend over large genetic distances. We compared LD unit map distances with pair-wise measurements of LD in a dense single nucleotide polymorphism (SNP) set. We genot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::8078c88689dbd8bad6622591521413a3
http://www.cnr.it/prodotto/i/26351

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