Butler enables rapid cloud-based analysis of thousands of human genomes

被引：10

作者：

Yakneen, Sergei ^{[1
,2
,4
]}

Waszak, Sebastian M. ^{[1
]}

Gertz, Michael ^{[2
]}

Korbel, Jan O. ^{[1
,3
]}

Aminou, Brice ^{[5
]}

Bartolome, Javier ^{[6
]}

Boroevich, Keith A. ^{[7
,8
]}

Boyce, Rich ^{[3
]}

Brooks, Angela N. ^{[9
,10
,11
]}

Buchanan, Alex ^{[12
]}

Buchhalter, Ivo ^{[13
,14
,15
,16
]}

Butler, Adam P. ^{[17
]}

Byrne, Niall J. ^{[5
]}

Cafferkey, Andy ^{[3
]}

Campbell, Peter J. ^{[17
,18
]}

Chen, Zhaohong ^{[19
]}

Cho, Sunghoon ^{[20
]}

Choi, Wan ^{[21
]}

Clapham, Peter ^{[17
]}

Davis-Dusenbery, Brandi N. ^{[22
]}

De La Vega, Francisco M. ^{[23
,24
,25
,26
]}

Demeulemeester, Jonas ^{[27
,28
]}

Dow, Michelle T. ^{[19
]}

Dursi, Lewis Jonathan ^{[29
,30
]}

Eils, Juergen ^{[31
,32
,33
]}

Eils, Roland ^{[13
,15
,16
,31
,32
,33
]}

Ellrott, Kyle ^{[12
]}

Farcas, Claudiu ^{[19
]}

Favero, Francesco ^{[34
]}

Fayzullaev, Nodirjon ^{[5
]}

Ferretti, Vincent ^{[5
,35
]}

Flicek, Paul ^{[3
]}

Fonseca, Nuno A. ^{[3
,36
]}

Gelpi, Josep Ll ^{[6
,37
]}

Getz, Gad ^{[9
,38
,39
,40
]}

Gibson, Bob ^{[5
]}

Grossman, Robert L. ^{[41
]}

Harismendy, Olivier ^{[42
,43
]}

Heath, Allison P. ^{[44
]}

Heinold, Michael C. ^{[13
,15
,16
]}

Hess, Julian M. ^{[9
,45
]}

Hofmann, Oliver ^{[46
]}

Hong, Jongwhi H. ^{[47
]}

Hudson, Thomas J. ^{[48
,49
]}

Hutter, Barbara ^{[50
,51
,52
]}

Hutter, Carolyn M. ^{[53
]}

Huebschmann, Daniel ^{[15
,16
,31
,54
,55
,56
]}

Imoto, Seiya ^{[57
]}

Ivkovic, Sinisa ^{[58
]}

Jeon, Seung-Hyup ^{[21
]}

机构：

[1] European Mol Biol Lab, Genome Biol Unit, Heidelberg, Germany

[2] Heidelberg Univ, Inst Comp Sci, Heidelberg, Germany

[3] European Bioinformat Inst, EMBL, Hinxton, England

[4] Sophia Genet SA, St Sulpice, Switzerland

[5] Ontario Inst Canc Res, Genome Informat Program, Toronto, ON, Canada

[6] Barcelona Supercomp Ctr, Barcelona, Spain

[7] RIKEN Ctr Integrat Med Sci, Lab Med Sci Math, Yokohama, Kanagawa, Japan

[8] RIKEN Ctr Integrat Med Sci, Yokohama, Kanagawa, Japan

[9] Broad Inst MIT & Harvard, Cambridge, MA 02142 USA

[10] Dana Farber Canc Inst, Boston, MA 02115 USA

[11] Univ Calif Santa Cruz, Santa Cruz, CA 95064 USA

[12] Oregon Hlth & Sci Univ, Portland, OR 97201 USA

[13] German Canc Res Ctr, Div Theoret Bioinformat, Heidelberg, Germany

[14] German Canc Res Ctr, Heidelberg Ctr Personalized Oncol DKFZ HIPO, Heidelberg, Germany

[15] Heidelberg Univ, Inst Pharm & Mol Biotechnol, Heidelberg, Germany

[16] Heidelberg Univ, BioQuant, Heidelberg, Germany

[17] Wellcome Sanger Inst, Wellcome Genome Campus, Cambridge, England

[18] Univ Cambridge, Dept Haematol, Cambridge, England

[19] Univ Calif San Diego, San Diego, CA 92103 USA

[20] PDXen Biosyst Inc, Seoul, South Korea

[21] Elect & Telecommun Res Inst, Daejeon, South Korea

[22] Seven Bridges Genom, Charlestown, MA USA

[23] Annai Syst Inc, Carlsbad, CA USA

[24] Stanford Univ, Dept Biomed Data Sci, Sch Med, Stanford, CA 94305 USA

[25] Stanford Univ, Dept Genet, Sch Med, Stanford, CA 94305 USA

[26] Stanford Univ, Dept Genet & Biomed Data Sci, Sch Med, Stanford, CA 94305 USA

[27] Univ Leuven, Leuven, Belgium

[28] Francis Crick Inst, London, England

[29] Ontario Inst Canc Res, Computat Biol Program, Toronto, ON, Canada

[30] Hosp Sick Children, Toronto, ON, Canada

[31] Heidelberg Univ, Heidelberg, Germany

[32] Berlin Inst Hlth, New BIH Digital Hlth Ctr, Berlin, Germany

[33] Charite Univ Med Berlin, Berlin, Germany

[34] Rigshosp, Copenhagen, Denmark

[35] Univ Montreal, Dept Biochem & Mol Med, Montreal, PQ, Canada

[36] Univ Porto, CIBIO InBIO Res Ctr Biodivers & Genet Resources, Vairo, Portugal

[37] Univ Barcelona, Dept Biochem & Mol Biomed, Barcelona, Spain

[38] Massachusetts Gen Hosp, Ctr Canc Res, Boston, MA 02114 USA

[39] Massachusetts Gen Hosp, Dept Pathol, Boston, MA 02114 USA

[40] Harvard Med Sch, Boston, MA 02115 USA

[41] Univ Chicago, Chicago, IL 60637 USA

[42] UC San Diego Sch Med, Dept Med, Div Biomed Informat, San Diego, CA USA

[43] UC San Diego Sch Med, Moores Canc Ctr, San Diego, CA USA

[44] Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA

[45] Massachusetts Gen Hosp, Ctr Canc Res, Charlestown, MA USA

[46] Univ Melbourne, Ctr Canc Res, Melbourne, Vic, Australia

[47] Syntekabio Inc, Daejeon, South Korea

[48] AbbVie, N Chicago, IL USA

[49] Ontario Inst Canc Res, Genom Program, Toronto, ON, Canada

[50] German Canc Consortium DKTK, Heidelberg, Germany

来源：

NATURE BIOTECHNOLOGY | 2020年 / 38卷 / 03期

基金：

欧洲研究理事会; 瑞士国家科学基金会;

关键词：

VARIANT DISCOVERY;

D O I：

10.1038/s41587-019-0360-3

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

Efficient, large-scale genomic analysis is facilitated on the cloud by a computational tool with error-diagnosing and self-healing capabilities. We present Butler, a computational tool that facilitates large-scale genomic analyses on public and academic clouds. Butler includes innovative anomaly detection and self-healing functions that improve the efficiency of data processing and analysis by 43% compared with current approaches. Butler enabled processing of a 725-terabyte cancer genome dataset from the Pan-Cancer Analysis of Whole Genomes (PCAWG) project in a time-efficient and uniform manner.

引用

页码：288 / +

页数：8

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