التفاصيل البيبلوغرافية
| العنوان: |
A global reference for human genetic variation |
| المؤلفون: |
Auton A., Abecasis G.R., Altshuler D.M., Durbin R.M., Bentley D.R., Chakravarti A., Clark A.G., Donnelly P., Eichler E.E., Flicek P., Gabriel S.B., Gibbs R.A., Green E.D., Hurles M.E., Knoppers B.M., Korbel J.O., Lander E.S., Lee C., Lehrach H., Mardis E.R., Marth G.T., McVean G.A., Nickerson D.A., Schmidt J.P., Sherry S.T., Wang J., Wilson R.K., Boerwinkle E., Doddapaneni H., Han Y., Korchina V., Kovar C., Lee S., Muzny D., Reid J.G., Zhu Y., Chang Y., Feng Q., Fang X., Guo X., Jian M., Jiang H., Jin X., Lan T., Li G., Li J., Li Y., Liu S., Liu X., Lu Y., Ma X., Tang M., Wang B., Wang G., Wu H., Wu R., Xu X., Yin Y., Zhang D., Zhang W., Zhao J., Zhao M., Zheng X., Gupta N., Gharani N., Toji L.H., Gerry N.P., Resch A.M., Barker J., Clarke L., Gil L., Hunt S.E., Kelman G., Kulesha E., Leinonen R., McLaren W.M., Radhakrishnan R., Roa A., Smirnov D., Smith R.E., Streeter I., Thormann A., Toneva I., Vaughan B., Zheng-Bradley X., Grocock R., Humphray S., James T., Kingsbury Z., Sudbrak R., Albrecht M.W., Amstislavskiy V.S., Borodina T.A., Lienhard M., Mertes F., Sultan M., Timmermann B., Yaspo M.-L., Fulton L., Ananiev V., Belaia Z., Beloslyudtsev D., Bouk N., Chen C., Church D., 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., Balasubramaniam S., Burton J., Danecek P., Keane T.M., Kolb-Kokocinski A., McCarthy S., Stalker J., Quail M., Davies C.J., Gollub J., Webster T., Wong B., Zhan Y., Campbell C.L., Kong Y., Marcketta A., Yu F., Antunes L., Bainbridge M., Sabo A., Huang Z., Coin L.J.M., Fang L., Li Q., Li Z., Lin H., Liu B., Luo R., Shao H., Xie Y., Ye C., Yu C., Zhang F., Zheng H., Zhu H., Alkan C., Dal E., Kahveci F., Garrison E.P., Kural D., Lee W.-P., Leong W.F., Stromberg M., Ward A.N., Wu J., Zhang M., Daly M.J., DePristo M.A., Handsaker R.E., Banks E., Bhatia G., Del Angel G., Genovese G., Li H., Kashin S., McCarroll S.A., Nemesh J.C., Poplin R.E., Yoon S.C., Lihm J., Makarov V., Gottipati S., Keinan A., Rodriguez-Flores J.L., Rausch T., Fritz M.H., Stütz A.M., Beal K., Datta A., Herrero J., Ritchie G.R.S., Zerbino D., Sabeti P.C., Shlyakhter I., Schaffner S.F., Vitti J., Cooper D.N., Ball E.V., Stenson P.D., Barnes B., Bauer M., Cheetham R.K., Cox A., Eberle M., Kahn S., Murray L., Peden J., Shaw R., Kenny E.E., Batzer M.A., Konkel M.K., Walker J.A., MacArthur D.G., Lek M., Herwig R., Ding L., Koboldt D.C., Larson D., Ye K., Gravel S., Swaroop A., Chew E., Lappalainen T., Erlich Y., Gymrek M., Willems T.F., Simpson J.T., Shriver M.D., Rosenfeld J.A., Bustamante C.D., Montgomery S.B., De La Vega F.M., Byrnes J.K., Carroll A.W., DeGorter M.K., Lacroute P., Maples B.K., Martin A.R., Moreno-Estrada A., Shringarpure S.S., Zakharia F., Halperin E., Baran Y., Cerveira E., Hwang J., Malhotra A., Plewczynski D., Radew K., Romanovitch M., Zhang C., Hyland F.C.L., Craig D.W., Christoforides A., Homer N., Izatt T., Kurdoglu A.A., Sinari S.A., Squire K., Xiao C., Sebat J., Antaki D., Gujral M., Noor A., Burchard E.G., Hernandez R.D., Gignoux C.R., Haussler D., Katzman S.J., Kent W.J., Howie B., Ruiz-Linares A., Dermitzakis E.T., Devine S.E., Kang H.M., Kidd J.M., Blackwell T., Caron S., Chen W., Emery S., Fritsche L., Fuchsberger C., Jun G., Li B., Lyons R., Scheller C., Sidore C., Song S., Sliwerska E., Taliun D., Tan A., Welch R., Wing M.K., Zhan X., Awadalla P., Hodgkinson A., Shi X., Quitadamo A., Lunter G., Marchini J.L., Myers S., Churchhouse C., Delaneau O., Gupta-Hinch A., Kretzschmar W., Iqbal Z., Mathieson I., Menelaou A., Rimmer A., Xifara D.K., Oleksyk T.K., Fu Y., Xiong M., Jorde L., Witherspoon D., Xing J., Browning B.L., Browning S.R., Hormozdiari F., Sudmant P.H., Khurana E., Tyler-Smith C., Albers C.A., Ayub Q., Chen Y., Colonna V., Jostins L., Walter K., Xue Y., Gerstein M.B., Abyzov A., Balasubramanian S., Chen J., Clarke D., Harmanci A.O., Jin M., Lee D., Liu J., Mu X.J., Zhang J., Zhang Y., Hartl C., Shakir K., Degenhardt J., Meiers S., Raeder B., Casale F.P., Stegle O., Lameijer E.-W., Hall I., Bafna V., Michaelson J., Gardner E.J., Mills R.E., Dayama G., Chen K., Fan X., Chong Z., Chen T., Chaisson M.J., Huddleston J., Malig M., Nelson B.J., Parrish N.F., Blackburne B., Lindsay S.J., Ning Z., Lam H., Sisu C., Challis D., Evani U.S., Lu J., Nagaswamy U., Yu J., Li W., Habegger L., Yu H., Cunningham F., Dunham I., Lage K., Jespersen J.B., Horn H., Kim D., Desalle R., Narechania A., Sayres M.A.W., Mendez F.L., Poznik G.D., Underhill P.A., Mittelman D., Banerjee R., Cerezo M., Fitzgerald T.W., Louzada S., Massaia A., Yang F., Kalra D., Hale W., Dan X., Barnes K.C., Beiswanger C., Cai H., Cao H., Henn B., Jones D., Kaye J.S., Kent A., Kerasidou A., Mathias R., Ossorio P.N., Parker M., Rotimi C.N., Royal C.D., Sandoval K., Su Y., Tian Z., Tishkoff S., Via M., Wang Y., Yang H., Yang L., Zhu J., Bodmer W., Bedoya G., Cai Z., Gao Y., Chu J., Peltonen L., Garcia-Montero A., Orfao A., Dutil J., Martinez-Cruzado J.C., Mathias R.A., Hennis A., Watson H., McKenzie C., Qadri F., LaRocque R., Deng X., Asogun D., Folarin O., Happi C., Omoniwa O., Stremlau M., Tariyal R., Jallow M., Joof F.S., Corrah T., Rockett K., Kwiatkowski D., Kooner J., Hien T.T., Dunstan S.J., ThuyHang N., Fonnie R., Garry R., Kanneh L., Moses L., Schieffelin J., Grant D.S., Gallo C., Poletti G., Saleheen D., Rasheed A., Brooks L.D., Felsenfeld A.L., McEwen J.E., Vaydylevich Y., Duncanson A., Dunn M., Schloss J.A. |
| المصدر: |
Nature |
| بيانات النشر: |
Nature Publishing Group |
| سنة النشر: |
2015 |
| المجموعة: |
Bilkent University: Institutional Repository |
| مصطلحات موضوعية: |
ancestry, genetic variation, genomics, genotype, polymorphism, public health, demography, gene frequency, gene linkage disequilibrium, gene structure, genetic association, genetic variability, haplotype, human, human genetics, human genome, indel mutation, major clinical study, population genetics, population structure, priority journal, promoter region, quantitative trait locus, retroposon, Review, single nucleotide polymorphism, chromosome map, disease predisposition, DNA sequence, exome |
| الوصف: |
The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-genome sequencing, deep exome sequencing, and dense microarray genotyping. We characterized a broad spectrum of genetic variation, in total over 88 million variants (84.7 million single nucleotide polymorphisms (SNPs), 3.6 million short insertions/deletions (indels), and 60,000 structural variants), all phased onto high-quality haplotypes. This resource includes >99% of SNP variants with a frequency of >1% for a variety of ancestries. We describe the distribution of genetic variation across the global sample, and discuss the implications for common disease studies. © 2015 Macmillan Publishers Limited. All rights reserved. |
| نوع الوثيقة: |
review |
| وصف الملف: |
application/pdf |
| اللغة: |
English |
| العلاقة: |
http://dx.doi.org/10.1038/nature15393Test; 280836; http://hdl.handle.net/11693/38161Test |
| DOI: |
10.1038/nature15393 |
| الإتاحة: |
https://doi.org/10.1038/nature15393Test
http://hdl.handle.net/11693/38161Test |
| رقم الانضمام: |
edsbas.51ED5A39 |
| قاعدة البيانات: |
BASE |
