31 March 2010

Sanger Institute papers in Nature

Institute authors contribute to five genome papers in prestigious journal

Authors from the Wellcome Trust Sanger Institute have contributed to five publications which appear in this week's edition of the prestigious journal Nature. The journal will publish a special 'Genome Edition' in print on Thursday 1 April. This year marks ten years since the announcement of the draft human genome sequence in June 2000.

The five papers highlight the scale and ambition of the research to which Institute researchers contribute nearly ten years after that seminal moment in genetic science: they are evidence of the way in which the freely available sequence produced by the Human Genome Project has transformed biological research.

"It is great to see this contribution from the Sanger Institute, nearly a decade after we published the draft human genome," says Professor Mike Stratton, Deputy Director of the Wellcome Trust Sanger Institute. "This issue of Nature is a tour de force for genome scientists around the world and it is a testament to the vision of the research teams here at the Institute, that we are able to contribute in this way."

Together, the publications highlight new possibilities in genetic science - unthinkable just a few years ago.

The papers include the publication of the complete zebra finch genome, a new triumph for the Ensembl project which launched in 2000 to coincide with the completion of the Human Genome Project. Ensembl is a genome browser - the definitive source of genomic interpretation. The Ensembl team identified and described the genes in the zebra finch genome sequence.
(From alpaca to zebra finch)

" This issue of Nature is a tour de force for genome scientists around the world and it is a testament to the vision of the research teams here at the Institute, that we are able to contribute in this way. "

Professor Mike Stratton

Also included is a study looking into the role of copy number variation (CNVs) in the genetics of common diseases including diabetes, heart disease and bipolar disorder. The study uses new technologies to analyse data from over 20,000 people and concludes that structural variation - a phenomenon first seen in the genome just five years ago - seems to play a less central role in the heritability of common diseases than had been thought.
(CNVs and common disease)

In another paper, published online in 2009 and in print in Nature's 'Genome Edition', an international team looks again at structural variation, offering the finest map of structural changes in the human genome and a resource they have developed for researchers worldwide to look at the role of these changes in human disease. They also identify 75 'jumping genes' - regions of our genome that can be found in more than one location in some individuals.
(Jumping genes, gene loss and genome dark matter)

In a further paper, published online earlier this month and set to appear in the print version of Nature's 'Genome Edition', researchers use novel technology in RNA sequencing provide the most detailed picture of how gene activity in blood cells differs between individuals and to look at the variations in DNA that shape this.
(Exploring genetic effects in cells)

A final paper contributed to by the Sanger Institute looks at the consequences of disrupting each of the human genes. The MitoCheck team prevented each of the 21,000 human genes form working and watched the consequences using time-lapse video. The project is built on an IT and software infrastructure to allow such global research to be analysed. Like the Human Genome Project researchers, the MitoCheck team has made its data freely available.
(Movies for the human genome)

Since the Sanger Institute made the largest single contribution to the gold standard human genome sequence, it has turned its attention to rooting out the genetic basis of human health and disease. Today's publications highlight how genome sequence has become a scaffold to ask ever more probing questions and test increasingly ambitious hypotheses.

Notes to Editors

Publication details

The papers including Sanger Institute authors are:

  • The genome of a songbird.

    Warren WC, Clayton DF, Ellegren H, Arnold AP, Hillier LW, Künstner A, Searle S, White S, Vilella AJ, Fairley S, Heger A, Kong L, Ponting CP, Jarvis ED, Mello CV, Minx P, Lovell P, Velho TA, Ferris M, Balakrishnan CN, Sinha S, Blatti C, London SE, Li Y, Lin YC, George J, Sweedler J, Southey B, Gunaratne P, Watson M, Nam K, Backström N, Smeds L, Nabholz B, Itoh Y, Whitney O, Pfenning AR, Howard J, Völker M, Skinner BM, Griffin DK, Ye L, McLaren WM, Flicek P, Quesada V, Velasco G, Lopez-Otin C, Puente XS, Olender T, Lancet D, Smit AF, Hubley R, Konkel MK, Walker JA, Batzer MA, Gu W, Pollock DD, Chen L, Cheng Z, Eichler EE, Stapley J, Slate J, Ekblom R, Birkhead T, Burke T, Burt D, Scharff C, Adam I, Richard H, Sultan M, Soldatov A, Lehrach H, Edwards SV, Yang SP, Li X, Graves T, Fulton L, Nelson J, Chinwalla A, Hou S, Mardis ER and Wilson RK

    Nature 2010;464;7289;757-62

  • Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.

    Wellcome Trust Case Control Consortium, Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, Robson S, Vukcevic D, Barnes C, Conrad DF, Giannoulatou E, Holmes C, Marchini JL, Stirrups K, Tobin MD, Wain LV, Yau C, Aerts J, Ahmad T, Andrews TD, Arbury H, Attwood A, Auton A, Ball SG, Balmforth AJ, Barrett JC, Barroso I, Barton A, Bennett AJ, Bhaskar S, Blaszczyk K, Bowes J, Brand OJ, Braund PS, Bredin F, Breen G, Brown MJ, Bruce IN, Bull J, Burren OS, Burton J, Byrnes J, Caesar S, Clee CM, Coffey AJ, Connell JM, Cooper JD, Dominiczak AF, Downes K, Drummond HE, Dudakia D, Dunham A, Ebbs B, Eccles D, Edkins S, Edwards C, Elliot A, Emery P, Evans DM, Evans G, Eyre S, Farmer A, Ferrier IN, Feuk L, Fitzgerald T, Flynn E, Forbes A, Forty L, Franklyn JA, Freathy RM, Gibbs P, Gilbert P, Gokumen O, Gordon-Smith K, Gray E, Green E, Groves CJ, Grozeva D, Gwilliam R, Hall A, Hammond N, Hardy M, Harrison P, Hassanali N, Hebaishi H, Hines S, Hinks A, Hitman GA, Hocking L, Howard E, Howard P, Howson JM, Hughes D, Hunt S, Isaacs JD, Jain M, Jewell DP, Johnson T, Jolley JD, Jones IR, Jones LA, Kirov G, Langford CF, Lango-Allen H, Lathrop GM, Lee J, Lee KL, Lees C, Lewis K, Lindgren CM, Maisuria-Armer M, Maller J, Mansfield J, Martin P, Massey DC, McArdle WL, McGuffin P, McLay KE, Mentzer A, Mimmack ML, Morgan AE, Morris AP, Mowat C, Myers S, Newman W, Nimmo ER, O'Donovan MC, Onipinla A, Onyiah I, Ovington NR, Owen MJ, Palin K, Parnell K, Pernet D, Perry JR, Phillips A, Pinto D, Prescott NJ, Prokopenko I, Quail MA, Rafelt S, Rayner NW, Redon R, Reid DM, Renwick, Ring SM, Robertson N, Russell E, St Clair D, Sambrook JG, Sanderson JD, Schuilenburg H, Scott CE, Scott R, Seal S, Shaw-Hawkins S, Shields BM, Simmonds MJ, Smyth DJ, Somaskantharajah E, Spanova K, Steer S, Stephens J, Stevens HE, Stone MA, Su Z, Symmons DP, Thompson JR, Thomson W, Travers ME, Turnbull C, Valsesia A, Walker M, Walker NM, Wallace C, Warren-Perry M, Watkins NA, Webster J, Weedon MN, Wilson AG, Woodburn M, Wordsworth BP, Young AH, Zeggini E, Carter NP, Frayling TM, Lee C, McVean G, Munroe PB, Palotie A, Sawcer SJ, Scherer SW, Strachan DP, Tyler-Smith C, Brown MA, Burton PR, Caulfield MJ, Compston A, Farrall M, Gough SC, Hall AS, Hattersley AT, Hill AV, Mathew CG, Pembrey M, Satsangi J, Stratton MR, Worthington J, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand W, Parkes M, Rahman N, Todd JA, Samani NJ and Donnelly P

    Nature 2010;464;7289;713-20

  • Origins and functional impact of copy number variation in the human genome.

    Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, Fitzgerald T, Hu M, Ihm CH, Kristiansson K, Macarthur DG, Macdonald JR, Onyiah I, Pang AW, Robson S, Stirrups K, Valsesia A, Walter K, Wei J, Wellcome Trust Case Control Consortium, Tyler-Smith C, Carter NP, Lee C, Scherer SW and Hurles ME

    Nature 2010;464;7289;704-12

  • Phenotypic profiling of the human genome by time-lapse microscopy reveals cell division genes.

    Neumann B, Walter T, Hériché JK, Bulkescher J, Erfle H, Conrad C, Rogers P, Poser I, Held M, Liebel U, Cetin C, Sieckmann F, Pau G, Kabbe R, Wünsche A, Satagopam V, Schmitz MH, Chapuis C, Gerlich DW, Schneider R, Eils R, Huber W, Peters JM, Hyman AA, Durbin R, Pepperkok R and Ellenberg J

    Nature 2010;464;7289;721-7

  • Transcriptome genetics using second generation sequencing in a Caucasian population.

    Montgomery SB, Sammeth M, Gutierrez-Arcelus M, Lach RP, Ingle C, Nisbett J, Guigo R and Dermitzakis ET

    Nature 2010;464;7289;773-7

The Wellcome Trust Sanger Institute

The Wellcome Trust Sanger Institute, which receives the majority of its funding from the Wellcome Trust, was founded in 1992. The Institute is responsible for the completion of the sequence of approximately one-third of the human genome as well as genomes of model organisms and more than 90 pathogen genomes. In October 2006, new funding was awarded by the Wellcome Trust to exploit the wealth of genome data now available to answer important questions about health and disease.


The Wellcome Trust

The Wellcome Trust is a global charitable foundation dedicated to achieving extraordinary improvements in human and animal health. We support the brightest minds in biomedical research and the medical humanities. Our breadth of support includes public engagement, education and the application of research to improve health. We are independent of both political and commercial interests.


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