검색결과 : 19건
| No. | Article |
|---|---|
| 1 |
Towards complete and error-free genome assemblies of all vertebrate species Rhie A, McCarthy SA, Fedrigo O, Damas J, Formenti G, Koren S, Uliano-Silva M, Chow W, Fungtammasan A, Kim J, Lee C, Ko BJ, Chaisson M, Gedman GL, Cantin LJ, Thibaud-Nissen F, Haggerty L, Bista I, Smith M, Haase B, Mountcastle J, Winkler S, Paez S, Howard J, Vernes SC, Lama TM, Grutzner F, Warren WC, Balakrishnan CN, Burt D, George JM, Biegler MT, Iorns D, Digby A, Eason D, Robertson B, Edwards T, Wilkinson M, Turner G, Meyer A, Kautt AF, Franchini P, Detrich HW, Svardal H, Wagner M, Naylor GJP, Pippel M, Malinsky M, Mooney M, Simbirsky M, Hannigan BT, Pesout T, Houck M, Misuraca A, Kingan SB, Hall R, Kronenberg Z, Sovi I, Dunn C, Ning Z, Hastie A, Lee J, Selvaraj S, Green RE, Putnam NH, Gut I, Ghurye J, Garrison E, Sims Y, Collins J, Pelan S, Torrance J, Tracey A, Wood J, Dagnew RE, Guan D, London SE, Clayton DF, Mello CV, Friedrich SR, Lovell PV, Osipova E, Al-Ajli FO, Secomandi S, Kim H, Theofanopoulou C, Hiller M, Zhou Y, Harris RS, Makova KD, Medvedev P, Hoffman J, Masterson P, Clark K, Martin F, Howe K, Flicek P, Walenz BP, Kwak W, Clawson H, Diekhans M, Nassar L, Paten B, Kraus RHS, Crawford AJ, Gilbert MTP, Zhang G, Venkatesh B, Murphy RW, Koepfli KP, Shapiro B, Johnson WE, Di Palma F, Marques-Bonet T, Teeling EC, Warnow T, Graves JM, Ryder OA, Haussler D, O'Brien SJ, Korlach J, Lewin HA, Howe K, Myers EW, Durbin R, Phillippy AM, Jarvis ED Nature, 592(7856), 737, 2021 |
| 2 |
Insights into human genetic variation and population history from 929 diverse genomes Bergstrom A, McCarthy SA, Hui RY, Almarri MA, Ayub Q, Danecek P, Chen Y, Felkel S, Hallast P, Kamm J, Blanche H, Deleuze JF, Cann H, Mallick S, Reich D, Sandhu MS, Skoglund P, Scally A, Xue YL, Durbin R, Tyler-Smith C Science, 367(6484), 1339, 2020 |
| 3 |
The population history of northeastern Siberia since the Pleistocene Sikora M, Pitulko VV, Sousa VC, Allentoft ME, Vinner L, Rasmussen S, Margaryan A, Damgaard PD, de la Fuente C, Renaud G, Yang MA, Fu QM, Dupanloup I, Giampoudakis K, Nogues-Bravo D, Rahbek C, Kroonen G, Peyrot M, McColl H, Vasilyev SV, Veselovskaya E, Gerasimova M, Pavlova EY, Chasnyk VG, Nikolskiy PA, Gromov AV, Khartanovich VI, Moiseyev V, Grebenyuk PS, Fedorchenko AY, Lebedintsev AI, Slobodin SB, Malyarchuk BA, Martiniano R, Meldgaard M, Arppe L, Palo JU, Sundell T, Mannermaa K, Putkonen M, Alexandersen V, Primeau C, Baimukhanov N, Malhi RS, Sjogren KG, Kristiansen K, Wessman A, Sajantila A, Lahr MM, Durbin R, Nielsen R, Meltzer DJ, Excoffier L, Willerslev E Nature, 570(7760), 182, 2019 |
| 4 |
The first horse herders and the impact of early Bronze Age steppe expansions into Asia Damgaard PD, Martiniano R, Kamm J, Moreno-Mayar JV, Kroonen G, Peyrot M, Barjamovic G, Rasmussen S, Zacho C, Baimukhanov N, Zaibert V, Merz V, Biddanda A, Merz I, Loman V, Evdokimov V, Usmanova E, Hemphill B, Seguin-Orlando A, Yediay FE, Ullah I, Sjogren KG, Iversen KH, Choin J, de la Fuente C, Ilardo M, Schroeder H, Moiseyev V, Gromov A, Polyakov A, Omura S, Senyurt SY, Ahmad H, McKenzie C, Margaryan A, Hameed A, Samad A, Gul N, Khokhar MH, Goriunova OI, Bazaliiskii VI, Novembre J, Weber AW, Orlando L, Allentoft ME, Nielsen R, Kristiansen K, Sikora M, Outram AK, Durbin R, Willerslev E Science, 360(6396), 1422, 2018 |
| 5 |
Common genetic variation drives molecular heterogeneity in human iPSCs (vol 546, pg 370, 2017) Kilpinen H, Goncalves A, Leha A, Afzal V, Alasoo K, Ashford S, Bala S, Bensaddek D, Casale FP, Culley OJ, Danecek P, Faulconbridge A, Harrison PW, Kathuria A, McCarthy D, McCarthy SA, Meleckyte R, Memari Y, Moens N, Soares F, Mann A, Streeter I, Agu CA, Alderton A, Nelson R, Harper S, Patel M, White A, Patel SR, Clarke L, Halai R, Kirton CM, Kolb-Kokocinski A, Beales P, Birney E, Danovi D, Lamond AI, Ouwehand WH, Vallier L, Watt FM, Durbin R, Stegle O, Gaffney DJ Nature, 546(7660), 686, 2017 |
| 6 |
Common genetic variation drives molecular heterogeneity in human iPSCs Kilpinen H, Goncalves A, Leha A, Afzal V, Alasoo K, Ashford S, Bala S, Bensaddek D, Casale FP, Ulley OJC, Danecek P, Faulconbridge A, Harrison PW, Kathuria A, McCarthy D, McCarthy SA, Meleckyte R, Memari Y, Moens N, Soares F, Mann A, Streeter I, Agu CA, Alderton A, Nelson R, Harper S, Patel M, White A, Patel SR, Clarke L, Halai R, Kirton CM, Kolb-Kokocinski A, Beales P, Birney E, Danovi D, Lamond AI, Ouwehand WH, Vallier L, Watt FM, Durbin R, Stegle O, Gaffney DJ Nature, 546(7658), 370, 2017 |
| 7 |
A genomic history of Aboriginal Australia Malaspinas AS, Westaway MC, Muller C, Sousa VC, Lao O, Alves I, Bergstrom A, Athanasiadis G, Cheng JY, Crawford JE, Heupink TH, Macholdt E, Peischl S, Rasmussen S, Schiffels S, Subramanian S, Wright JL, Albrechtsen A, Barbieri C, Dupanloup I, Eriksson A, Margaryan A, Moltke I, Pugach I, Korneliussen TS, Levkivskyi IP, Moreno-Mayar JV, Ni S, Racimo F, Sikora M, Xue YL, Aghakhanian FA, Brucato N, Brunak S, Campos PF, Clark W, Ellingvag S, Fourmile G, Gerbault P, Injie D, Koki G, Leavesley M, Logan B, Lynch A, Matisoo-Smith EA, McAllister PJ, Mentzer AJ, Metspalu M, Migliano AB, Murgha L, Phipps ME, Pomat W, Reynolds D, Ricaut FX, Siba P, Thomas MG, Wales T, Wall CM, Oppenheimer SJ, Tyler-Smith C, Durbin R, Dortch J, Manica A, Schierup MH, Foley RA, Lahr MM, Bowern C, Wall JD, Mailund T, Stoneking M, Nielsen R, Sandhu MS, Excoffier L, Lambert DM, Willerslev E Nature, 538(7624), 207, 2016 |
| 8 |
Health and population effects of rare gene knockouts in adult humans with related parents Narasimhan VM, Hunt KA, Mason D, Baker CL, Karczewski KJ, Barnes MER, Barnett AH, Bates C, Bellary S, Bockett NA, Giorda K, Griffiths CJ, Hemingway H, Jia ZL, Kelly MA, Khawaja HA, Lek M, McCarthy S, McEachan R, O'Donnell-Luria A, Paigen K, Parisinos CA, Sheridan E, Southgate L, Tee L, Thomas M, Xue YL, Schnall-Levin M, Petkov PM, -Smith CT, Maher ER, Trembath RC, MacArthur DG, Wright J, Durbin R, Heel DA Science, 352(6284), 474, 2016 |
| 9 |
The UK10K project identifies rare variants in health and disease Walter K, Min JL, Huang J, Crooks L, Memari Y, McCarthy S, Perry JRB, Xu C, Futema M, Lawson D, Iotchkova V, Schiffels S, Hendricks AE, Danecek P, Li R, Floyd J, Wain LV, Barroso I, Humphries SE, Hurles ME, Zeggini E, Barrett JC, Plagnol V, Richards JB, Greenwood CMT, Timpson NJ, Durbin R, Soranzo N, Bala S, Clapham P, Coates G, Cox T, Daly A, Danecek P, Du Y, Durbin R, Edkins S, Ellis P, Flicek P, Guo X, Guo X, Huang L, Jackson DK, Joyce C, Keane T, Kolb-Kokocinski A, Langford C, Li Y, Liang J, Lin H, Liu R, Maslen J, McCarthy S, Muddyman D, Quail MA, Stalker J, Sun J, Tian J, Wang G, Wang J, Wang Y, Wong K, Zhang P, Barroso I, Birney E, Boustred C, Chen L, Clement G, Cocca M, Danecek P, Smith GD, Day INM, Day-Williams A, Down T, Dunham I, Durbin R, Evans DM, Gaunt TR, Geihs M, Greenwood CMT, Hart D, Hendricks AE, Howie B, Huang J, Hubbard T, Hysi P, Iotchkova V, Jamshidi Y, Karczewski KJ, Kemp JP, Lachance G, Lawson D, Lek M, Lopes M, MacArthur DG, Marchini J, Mangino M, Mathieson I, McCarthy S, Memari Y, Metrustry S, Min JL, Moayyeri A, Muddyman D, Northstone K, Panoutsopoulou K, Paternoster L, Perry JRB, Quaye L, Richards JB, Ring S, Ritchie GRS, Schiffels S, Shihab HA, Shin SY, Small KS, Artigas MS, Soranzo N, Southam L, Spector TD, St Pourcain B, Surdulescu G, Tachmazidou I, Timpson NJ, Tobin MD, Valdes AM, Visscher PM, Wain LV, Walter K, Ward K, Wilson SG, Wong K, Yang J, Zeggini E, Zhang F, Zheng HF, Anney R, Ayub M, Barrett JC, Blackwood D, Bolton PF, Breen G, Collier DA, Craddock N, Crooks L, Curran S, Curtis D, Durbin R, Gallagher L, Geschwind D, Gurling H, Holmans P, Lee I, Lonnqvist J, McCarthy S, McGuffin P, McIntosh AM, McKechanie AG, McQuillin A, Morris J, Muddyman D, O'Donovan MC, Owen MJ, Palotie A, Parr JR, Paunio T, Pietilainen O, Rehnstrom K, Sharp SI, Skuse D, St Clair D, Suvisaari J, Walters JTR, Williams HJ, Barroso I, Bochukova E, Bounds R, Dominiczak A, Durbin R, Farooqi IS, Hendricks AE, Keogh J, Marenne GL, McCarthy S, Morris A, Muddyman D, O'Rahilly S, Porteous DJ, Smith BH, Tachmazidou I, Wheeler E, Zeggini E, Al Turki S, Anderson CA, Antony D, Barroso IS, Beales P, Bentham J, Bhattacharya S, Calissano M, Carss K, Chatterjee K, Cirak S, Cosgrove C, Durbin R, Fitzpatrick DR, Floyd J, Foley AR, Franklin CS, Futema M, Grozeva D, Humphries SE, Hurles ME, McCarthy S, Mitchison HM, Muddyman D, Muntoni F, O'Rahilly S, Onoufriadis A, Parker V, Payne F, Plagnol V, Raymond FL, Roberts N, Savage DB, Scambler P, Schmidts M, Schoenmakers N, Semple RK, Serra E, Spasic-Boskovic O, Stevens E, van Kogelenberg M, Vijayarangakannan P, Walter K, Williamson KA, Wilson C, Whyte T, Ciampi A, Greenwood CMT, Hendricks AE, Li R, Metrustry S, Oualkacha K, Tachmazidou I, Xu CJ, Zeggini E, Bobrow M, Bolton PF, Durbin R, Fitzpatrick DR, Griffin H, Hurles ME, Kaye J, Kennedy K, Kent A, Muddyman D, Muntoni F, Raymond FL, Semple RK, Smee C, Spector TD, Timpson NJ, Charlton R, Ekong R, Futema M, Humphries SE, Khawaja F, Lopes LR, Migone N, Payne SJ, Plagnol V, Pollitt RC, Povey S, Ridout CK, Robinson RL, Scott RH, Shaw A, Syrris P, Taylor R, Vandersteen AM, Barrett JC, Barroso I, Smith GD, Durbin R, Farooqi IS, Fitzpatrick DR, Hurles ME, Kaye J, Kennedy K, Langford C, McCarthy S, Muddyman D, Owen MJ, Palotie A, Richards JB, Soranzo N, Spector TD, Stalker J, Timpson NJ, Zeggini E, Amuzu A, Casas JP, Chambers JC, Cocca M, Dedoussis G, Gambaro G, Gasparini P, Gaunt TR, Huang J, Iotchkova V, Isaacs A, Johnson J, Kleber ME, Kooner JS, Langenberg C, Luan J, Malerba G, Marz W, Matchan A, Min JL, Morris R, Nordestgaard BG, Benn M, Ring S, Scott RA, Soranzo N, Southam L, Timpson NJ, Toniolo D, Traglia M, Tybjaerg-Hansen A, van Duijn CM, van Leeuwen EM, Varbo A, Whincup P, Zaza G, Zeggini E, Zhang WH Nature, 526(7571), 82, 2015 |
| 10 |
Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture Zheng HF, Forgetta V, Hsu YH, Estrada K, Rosello-Diez A, Leo PJ, Dahia CL, Park-Min KH, Tobias JH, Kooperberg C, Kleinman A, Styrkarsdottir U, Liu CT, Uggla C, Evans DS, Nielson CM, 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 WC, Mokry LE, Moayyeri A, Claussnitzer M, Cheng CH, Cheung W, Medina-Gomez C, Ge B, Chen SH, Choi K, Oei L, Fraser J, Kraaij R, Hibbs MA, Gregson CL, Paquette D, Hofman A, Wibom C, Tranah GJ, Marshall M, Gardiner BB, Cremin K, Auer P, Hsu L, Ring S, Tung JY, Thorleifsson G, Enneman AW, van Schoor NM, de Groot LCPGM, van der Velde N, Melin B, Kemp JP, Christiansen C, Sayers A, Zhou YH, Calderari S, van Rooij J, Carlson C, Peters U, Berlivet S, Dostie J, Uitterlinden AG, Williams SR, Farber C, Grinberg D, LaCroix AZ, Haessler J, Chasman DI, Giulianini F, Rose LM, Ridker PM, Eisman JA, Nguyen TV, Center JR, Nogues X, Garcia-Giralt N, Launer LL, Gudnason V, Mellstrom D, Vandenput L, Amin N, van Duijn CM, Karlsson MK, Ljunggren O, Svensson O, Hallmans G, Rousseau F, Giroux S, Bussiere J, Arp PP, Koromani F, Prince RL, Lewis JR, Langdahl BL, Hermann AP, Jensen JEB, Kaptoge S, Khaw KT, Reeve J, Formosa MM, Xuereb-Anastasi A, Akesson K, McGuigan FE, Garg G, Olmos JM, Zarrabeitia MT, Riancho JA, Ralston SH, Alonso N, Jiang X, Goltzman D, Pastinen T, Grundberg E, Gauguier D, Orwoll ES, Karasik D, Davey-Smith G, Smith AV, Siggeirsdottir K, Harris TB, Zillikens MC, van Meurs JBJ, Thorsteinsdottir U, Maurano MT, Timpson NJ, Soranzo N, Durbin R, Wilson S, Ntzani EE, Brown MA, Stefansson K, Hinds DA, Spector T, Cupples LA, Ohlsson C, Greenwood CMT, Jackson RD, Rowe DW, Loomis CA, Evans DM, Ackert-Bicknell CL, Joyner AL, Duncan EL, Kiel DP, Rivadeneira F, Richards JB Nature, 526(7571), 112, 2015 |