The International Genome Sample Resource (IGSR) collection of open human genomic variation resources

被引：245

作者：

Fairley, Susan ^{[1
]}

Lowy-Gallego, Ernesto ^{[1
]}

Perry, Emily ^{[1
]}

Flicek, Paul ^{[1
]}

机构：

[1] European Bioinformat Inst, European Mol Biol Lab, Wellcome Genome Campus, Cambridge CB10 1SD, England

来源：

NUCLEIC ACIDS RESEARCH | 2020年 / 48卷 / D1期

基金：

美国国家卫生研究院; 英国惠康基金;

关键词：

D O I：

10.1093/nar/gkz836

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

To sustain and develop the largest fully open human genomic resources the International Genome Sample Resource (IGSR) (https://www.internationalgenome.org) was established. It is built on the foundation of the 1000 Genomes Project, which created the largest openly accessible catalogue of human genomic variation developed from samples spanning five continents. IGSR (i) maintains access to 1000 Genomes Project resources, (ii) updates 1000 Genomes Project resources to the GRCh38 human reference assembly, (iii) adds new data generated on 1000 Genomes Project cell lines, (iv) shares data from samples with a similarly open consent to increase the number of samples and populations represented in the resources and (v) provides support to users of these resources. Among recent updates are the release of variation calls from 1000 Genomes Project data calculated directly on GRCh38 and the addition of high coverage sequence data for the 2504 samples in the 1000 Genomes Project phase three panel. The data portal, which facilitates web-based exploration of the IGSR resources, has been updated to include samples which were not part of the 1000 Genomes Project and now presents a unified view of data and samples across almost 5000 samples from multiple studies. All data is fully open and publicly accessible.

引用

页码：D941 / D947

页数：7

共 12 条

[1] A map of human genome variation from population-scale sequencing [J].

Altshuler, David ;

Durbin, Richard M. ;

Abecasis, Goncalo R. ;

Bentley, David R. ;

Chakravarti, Aravinda ;

Clark, Andrew G. ;

Collins, Francis S. ;

De la Vega, Francisco M. ;

Donnelly, Peter ;

Egholm, Michael ;

Flicek, Paul ;

Gabriel, Stacey B. ;

Gibbs, Richard A. ;

Knoppers, Bartha M. ;

Lander, Eric S. ;

Lehrach, Hans ;

Mardis, Elaine R. ;

McVean, Gil A. ;

Nickerson, DebbieA. ;

Peltonen, Leena ;

Schafer, Alan J. ;

Sherry, Stephen T. ;

Wang, Jun ;

Wilson, Richard K. ;

Gibbs, Richard A. ;

Deiros, David ;

Metzker, Mike ;

Muzny, Donna ;

Reid, Jeff ;

Wheeler, David ;

Wang, Jun ;

Li, Jingxiang ;

Jian, Min ;

Li, Guoqing ;

Li, Ruiqiang ;

Liang, Huiqing ;

Tian, Geng ;

Wang, Bo ;

Wang, Jian ;

Wang, Wei ;

Yang, Huanming ;

Zhang, Xiuqing ;

Zheng, Huisong ;

Lander, Eric S. ;

Altshuler, David L. ;

Ambrogio, Lauren ;

Bloom, Toby ;

Cibulskis, Kristian ;

Fennell, Tim J. ;

Gabriel, Stacey B. .

NATURE, 2010, 467 (7319) :1061-1073

[2] A global reference for human genetic variation [J].

Altshuler, David M. ;

Durbin, Richard M. ;

Abecasis, Goncalo R. ;

Bentley, David R. ;

Chakravarti, Aravinda ;

Clark, Andrew G. ;

Donnelly, Peter ;

Eichler, Evan E. ;

Flicek, Paul ;

Gabriel, Stacey B. ;

Gibbs, Richard A. ;

Green, Eric D. ;

Hurles, Matthew E. ;

Knoppers, Bartha M. ;

Korbel, Jan O. ;

Lander, Eric S. ;

Lee, Charles ;

Lehrach, Hans ;

Mardis, Elaine R. ;

Marth, Gabor T. ;

McVean, Gil A. ;

Nickerson, Deborah A. ;

Wang, Jun ;

Wilson, Richard K. ;

Boerwinkle, Eric ;

Doddapaneni, Harsha ;

Han, Yi ;

Korchina, Viktoriya ;

Kovar, Christie ;

Lee, Sandra ;

Muzny, Donna ;

Reid, Jeffrey G. ;

Zhu, Yiming ;

Chang, Yuqi ;

Feng, Qiang ;

Fang, Xiaodong ;

Guo, Xiaosen ;

Jian, Min ;

Jiang, Hui ;

Jin, Xin ;

Lan, Tianming ;

Li, Guoqing ;

Li, Jingxiang ;

Li, Yingrui ;

Liu, Shengmao ;

Liu, Xiao ;

Lu, Yao ;

Ma, Xuedi ;

Tang, Meifang ;

Wang, Bo .

NATURE, 2015, 526 (7571) :68-+

[3] An integrated map of genetic variation from 1,092 human genomes [J].

Altshuler, David M. ;

Durbin, Richard M. ;

Abecasis, Goncalo R. ;

Bentley, David R. ;

Chakravarti, Aravinda ;

Clark, Andrew G. ;

Donnelly, Peter ;

Eichler, Evan E. ;

Flicek, Paul ;

Gabriel, Stacey B. ;

Gibbs, Richard A. ;

Green, Eric D. ;

Hurles, Matthew E. ;

Knoppers, Bartha M. ;

Korbel, Jan O. ;

Lander, Eric S. ;

Lee, Charles ;

Lehrach, Hans ;

Mardis, Elaine R. ;

Marth, Gabor T. ;

McVean, Gil A. ;

Nickerson, Deborah A. ;

Schmidt, Jeanette P. ;

Sherry, Stephen T. ;

Wang, Jun ;

Wilson, Richard K. ;

Gibbs, Richard A. ;

Dinh, Huyen ;

Kovar, Christie ;

Lee, Sandra ;

Lewis, Lora ;

Muzny, Donna ;

Reid, Jeff ;

Wang, Min ;

Wang, Jun ;

Fang, Xiaodong ;

Guo, Xiaosen ;

Jian, Min ;

Jiang, Hui ;

Jin, Xin ;

Li, Guoqing ;

Li, Jingxiang ;

Li, Yingrui ;

Li, Zhuo ;

Liu, Xiao ;

Lu, Yao ;

Ma, Xuedi ;

Su, Zhe ;

Tai, Shuaishuai ;

Tang, Meifang .

NATURE, 2012, 491 (7422) :56-65

[4] Multi-platform discovery of haplotype-resolved structural variation in human genomes [J].

Chaisson, Mark J. P. ;

Sanders, Ashley D. ;

Zhao, Xuefang ;

Malhotra, Ankit ;

Porubsky, David ;

Rausch, Tobias ;

Gardner, Eugene J. ;

Rodriguez, Oscar L. ;

Guo, Li ;

Collins, Ryan L. ;

Fan, Xian ;

Wen, Jia ;

Handsaker, Robert E. ;

Fairley, Susan ;

Kronenberg, Zev N. ;

Kong, Xiangmeng ;

Hormozdiari, Fereydoun ;

Lee, Dillon ;

Wenger, Aaron M. ;

Hastie, Alex R. ;

Antaki, Danny ;

Anantharaman, Thomas ;

Audano, Peter A. ;

Brand, Harrison ;

Cantsilieris, Stuart ;

Cao, Han ;

Cerveira, Eliza ;

Chen, Chong ;

Chen, Xintong ;

Chin, Chen-Shan ;

Chong, Zechen ;

Chuang, Nelson T. ;

Lambert, Christine C. ;

Church, Deanna M. ;

Clarke, Laura ;

Farrell, Andrew ;

Flores, Joey ;

Galeev, Timur ;

Gorkin, David U. ;

Gujral, Madhusudan ;

Guryev, Victor ;

Heaton, William Haynes ;

Korlach, Jonas ;

Kumar, Sushant ;

Kwon, Jee Young ;

Lam, Ernest T. ;

Lee, Jong Eun ;

Lee, Joyce ;

Lee, Wan-Ping ;

Lee, Sau Peng .

NATURE COMMUNICATIONS, 2019, 10 (1)

[5] The international Genome sample resource (IGSR): A worldwide collection of genome variation incorporating the 1000 Genomes Project data [J].

Clarke, Laura ;

Fairley, Susan ;

Zheng-Bradley, Xiangqun ;

Streeter, Ian ;

Perry, Emily ;

Lowy, Ernesto ;

Tasse, Anne-Marie ;

Flicek, Paul .

NUCLEIC ACIDS RESEARCH, 2017, 45 (D1) :D854-D859

[6] BioSamples database: an updated sample metadata hub [J].

Courtot, Melanie ;

Cherubin, Luca ;

Faulconbridge, Adam ;

Vaughan, Daniel ;

Green, Matthew ;

Richardson, David ;

Harrison, Peter ;

Whetzel, Patricia L. ;

Parkinson, Helen ;

Burdett, Tony .

NUCLEIC ACIDS RESEARCH, 2019, 47 (D1) :D1172-D1178

[7] Ensembl 2019 [J].

Cunningham, Fiona ;

Achuthan, Premanand ;

Akanni, Wasiu ;

Allen, James ;

Amode, M. Ridwan ;

Armean, Irina M. ;

Bennett, Ruth ;

Bhai, Jyothish ;

Billis, Konstantinos ;

Boddu, Sanjay ;

Cummins, Carla ;

Davidson, Claire ;

Dodiya, Kamalkumar Jayantilal ;

Gall, Astrid ;

Giron, Carlos Garcia ;

Gil, Laurent ;

Grego, Tiago ;

Haggerty, Leanne ;

Haskell, Erin ;

Hourlier, Thibaut ;

Izuogu, Osagie G. ;

Janacek, Sophie H. ;

Juettemann, Thomas ;

Kay, Mike ;

Laird, Matthew R. ;

Lavidas, Ilias ;

Liu, Zhicheng ;

Loveland, Jane E. ;

Marugan, Jose C. ;

Maurel, Thomas ;

McMahon, Aoife C. ;

Moore, Benjamin ;

Morales, Joannella ;

Mudge, Jonathan M. ;

Nuhn, Michael ;

Ogeh, Denye ;

Parker, Anne ;

Parton, Andrew ;

Patricio, Mateus ;

Salam, Ahamed Imran Abdul ;

Schmitt, Bianca M. ;

Schuilenburg, Helen ;

Sheppard, Dan ;

Sparrow, Helen ;

Stapleton, Eloise ;

Szuba, Marek ;

Taylor, Kieron ;

Threadgold, Glen ;

Thormann, Anja ;

Vullo, Alessandro .

NUCLEIC ACIDS RESEARCH, 2019, 47 (D1) :D745-D751

[8] Analysis of protein-coding genetic variation in 60,706 humans [J].

Lek, Monkol ;

Karczewski, Konrad J. ;

Minikel, Eric V. ;

Samocha, Kaitlin E. ;

Banks, Eric ;

Fennell, Timothy ;

O'Donnell-Luria, Anne H. ;

Ware, James S. ;

Hill, Andrew J. ;

Cummings, Beryl B. ;

Tukiainen, Taru ;

Birnbaum, Daniel P. ;

Kosmicki, Jack A. ;

Duncan, Laramie E. ;

Estrada, Karol ;

Zhao, Fengmei ;

Zou, James ;

Pierce-Hollman, Emma ;

Berghout, Joanne ;

Cooper, David N. ;

Deflaux, Nicole ;

DePristo, Mark ;

Do, Ron ;

Flannick, Jason ;

Fromer, Menachem ;

Gauthier, Laura ;

Goldstein, Jackie ;

Gupta, Namrata ;

Howrigan, Daniel ;

Kiezun, Adam ;

Kurki, Mitja I. ;

Moonshine, Ami Levy ;

Natarajan, Pradeep ;

Orozeo, Lorena ;

Peloso, Gina M. ;

Poplin, Ryan ;

Rivas, Manuel A. ;

Ruano-Rubio, Valentin ;

Rose, Samuel A. ;

Ruderfer, Douglas M. ;

Shakir, Khalid ;

Stenson, Peter D. ;

Stevens, Christine ;

Thomas, Brett P. ;

Tiao, Grace ;

Tusie-Luna, Maria T. ;

Weisburd, Ben ;

Won, Hong-Hee ;

Yu, Dongmei ;

Altshuler, David M. .

NATURE, 2016, 536 (7616) :285-+

[9] Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly [J].

Schneider, Valerie A. ;

Graves-Lindsay, Tina ;

Howe, Kerstin ;

Bouk, Nathan ;

Chen, Hsiu-Chuan ;

Kitts, Paul A. ;

Murphy, Terence D. ;

Pruitt, Kim D. ;

Thibaud-Nissen, Francoise ;

Albracht, Derek ;

Fulton, Robert S. ;

Kremitzki, Milinn ;

Magrini, Vincent ;

Markovic, Chris ;

McGrath, Sean ;

Steinberg, Karyn Meltz ;

Auger, Kate ;

Chow, William ;

Collins, Joanna ;

Harden, Glenn ;

Hubbard, Timothy ;

Pelan, Sarah ;

Simpson, Jared T. ;

Threadgold, Glen ;

Torrance, James ;

Wood, Jonathan M. ;

Clarke, Laura ;

Koren, Sergey ;

Boitano, Matthew ;

Peluso, Paul ;

Li, Heng ;

Chin, Chen-Shan ;

Phillippy, Adam M. ;

Durbin, Richard ;

Wilson, Richard K. ;

Flicek, Paul ;

Eichler, Evan E. ;

Church, Deanna M. .

GENOME RESEARCH, 2017, 27 (05) :849-864

[10] An integrated map of structural variation in 2,504 human genomes [J].

Sudmant, Peter H. ;

Rausch, Tobias ;

Gardner, Eugene J. ;

Handsaker, Robert E. ;

Abyzov, Alexej ;

Huddleston, John ;

Zhang, Yan ;

Ye, Kai ;

Jun, Goo ;

Fritz, Markus Hsi-Yang ;

Konkel, Miriam K. ;

Malhotra, Ankit ;

Stuetz, Adrian M. ;

Shi, Xinghua ;

Casale, Francesco Paolo ;

Chen, Jieming ;

Hormozdiari, Fereydoun ;

Dayama, Gargi ;

Chen, Ken ;

Malig, Maika ;

Chaisson, Mark J. P. ;

Walter, Klaudia ;

Meiers, Sascha ;

Kashin, Seva ;

Garrison, Erik ;

Auton, Adam ;

Lam, Hugo Y. K. ;

Mu, Xinmeng Jasmine ;

Alkan, Can ;

Antaki, Danny ;

Bae, Taejeong ;

Cerveira, Eliza ;

Chines, Peter ;

Chong, Zechen ;

Clarke, Laura ;

Dal, Elif ;

Ding, Li ;

Emery, Sarah ;

Fan, Xian ;

Gujral, Madhusudan ;

Kahveci, Fatma ;

Kidd, Jeffrey M. ;

Kong, Yu ;

Lameijer, Eric-Wubbo ;

McCarthy, Shane ;

Flicek, Paul ;

Gibbs, Richard A. ;

Marth, Gabor ;

Mason, Christopher E. ;

Menelaou, Androniki .

NATURE, 2015, 526 (7571) :75-+

← 1 2 →

共 12 条

[1] A map of human genome variation from population-scale sequencing [J].

Altshuler, David ;

Durbin, Richard M. ;

Abecasis, Goncalo R. ;

Bentley, David R. ;

Chakravarti, Aravinda ;

Clark, Andrew G. ;

Collins, Francis S. ;

De la Vega, Francisco M. ;

Donnelly, Peter ;

Egholm, Michael ;

Flicek, Paul ;

Gabriel, Stacey B. ;

Gibbs, Richard A. ;

Knoppers, Bartha M. ;

Lander, Eric S. ;

Lehrach, Hans ;

Mardis, Elaine R. ;

McVean, Gil A. ;

Nickerson, DebbieA. ;

Peltonen, Leena ;

Schafer, Alan J. ;

Sherry, Stephen T. ;

Wang, Jun ;

Wilson, Richard K. ;

Gibbs, Richard A. ;

Deiros, David ;

Metzker, Mike ;

Muzny, Donna ;

Reid, Jeff ;

Wheeler, David ;

Wang, Jun ;

Li, Jingxiang ;

Jian, Min ;

Li, Guoqing ;

Li, Ruiqiang ;

Liang, Huiqing ;

Tian, Geng ;

Wang, Bo ;

Wang, Jian ;

Wang, Wei ;

Yang, Huanming ;

Zhang, Xiuqing ;

Zheng, Huisong ;

Lander, Eric S. ;

Altshuler, David L. ;

Ambrogio, Lauren ;

Bloom, Toby ;

Cibulskis, Kristian ;

Fennell, Tim J. ;

Gabriel, Stacey B. .

NATURE, 2010, 467 (7319) :1061-1073

[2] A global reference for human genetic variation [J].

Altshuler, David M. ;

Durbin, Richard M. ;

Abecasis, Goncalo R. ;

Bentley, David R. ;

Chakravarti, Aravinda ;

Clark, Andrew G. ;

Donnelly, Peter ;

Eichler, Evan E. ;

Flicek, Paul ;

Gabriel, Stacey B. ;

Gibbs, Richard A. ;

Green, Eric D. ;

Hurles, Matthew E. ;

Knoppers, Bartha M. ;

Korbel, Jan O. ;

Lander, Eric S. ;

Lee, Charles ;

Lehrach, Hans ;

Mardis, Elaine R. ;

Marth, Gabor T. ;

McVean, Gil A. ;

Nickerson, Deborah A. ;

Wang, Jun ;

Wilson, Richard K. ;

Boerwinkle, Eric ;

Doddapaneni, Harsha ;

Han, Yi ;

Korchina, Viktoriya ;

Kovar, Christie ;

Lee, Sandra ;

Muzny, Donna ;

Reid, Jeffrey G. ;

Zhu, Yiming ;

Chang, Yuqi ;

Feng, Qiang ;

Fang, Xiaodong ;

Guo, Xiaosen ;

Jian, Min ;

Jiang, Hui ;

Jin, Xin ;

Lan, Tianming ;

Li, Guoqing ;

Li, Jingxiang ;

Li, Yingrui ;

Liu, Shengmao ;

Liu, Xiao ;

Lu, Yao ;

Ma, Xuedi ;

Tang, Meifang ;

Wang, Bo .

NATURE, 2015, 526 (7571) :68-+

[3] An integrated map of genetic variation from 1,092 human genomes [J].

Altshuler, David M. ;

Durbin, Richard M. ;

Abecasis, Goncalo R. ;

Bentley, David R. ;

Chakravarti, Aravinda ;

Clark, Andrew G. ;

Donnelly, Peter ;

Eichler, Evan E. ;

Flicek, Paul ;

Gabriel, Stacey B. ;

Gibbs, Richard A. ;

Green, Eric D. ;

Hurles, Matthew E. ;

Knoppers, Bartha M. ;

Korbel, Jan O. ;

Lander, Eric S. ;

Lee, Charles ;

Lehrach, Hans ;

Mardis, Elaine R. ;

Marth, Gabor T. ;

McVean, Gil A. ;

Nickerson, Deborah A. ;

Schmidt, Jeanette P. ;

Sherry, Stephen T. ;

Wang, Jun ;

Wilson, Richard K. ;

Gibbs, Richard A. ;

Dinh, Huyen ;

Kovar, Christie ;

Lee, Sandra ;

Lewis, Lora ;

Muzny, Donna ;

Reid, Jeff ;

Wang, Min ;

Wang, Jun ;

Fang, Xiaodong ;

Guo, Xiaosen ;

Jian, Min ;

Jiang, Hui ;

Jin, Xin ;

Li, Guoqing ;

Li, Jingxiang ;

Li, Yingrui ;

Li, Zhuo ;

Liu, Xiao ;

Lu, Yao ;

Ma, Xuedi ;

Su, Zhe ;

Tai, Shuaishuai ;

Tang, Meifang .

NATURE, 2012, 491 (7422) :56-65

[4] Multi-platform discovery of haplotype-resolved structural variation in human genomes [J].

Chaisson, Mark J. P. ;

Sanders, Ashley D. ;

Zhao, Xuefang ;

Malhotra, Ankit ;

Porubsky, David ;

Rausch, Tobias ;

Gardner, Eugene J. ;

Rodriguez, Oscar L. ;

Guo, Li ;

Collins, Ryan L. ;

Fan, Xian ;

Wen, Jia ;

Handsaker, Robert E. ;

Fairley, Susan ;

Kronenberg, Zev N. ;

Kong, Xiangmeng ;

Hormozdiari, Fereydoun ;

Lee, Dillon ;

Wenger, Aaron M. ;

Hastie, Alex R. ;

Antaki, Danny ;

Anantharaman, Thomas ;

Audano, Peter A. ;

Brand, Harrison ;

Cantsilieris, Stuart ;

Cao, Han ;

Cerveira, Eliza ;

Chen, Chong ;

Chen, Xintong ;

Chin, Chen-Shan ;

Chong, Zechen ;

Chuang, Nelson T. ;

Lambert, Christine C. ;

Church, Deanna M. ;

Clarke, Laura ;

Farrell, Andrew ;

Flores, Joey ;

Galeev, Timur ;

Gorkin, David U. ;

Gujral, Madhusudan ;

Guryev, Victor ;

Heaton, William Haynes ;

Korlach, Jonas ;

Kumar, Sushant ;

Kwon, Jee Young ;

Lam, Ernest T. ;

Lee, Jong Eun ;

Lee, Joyce ;

Lee, Wan-Ping ;

Lee, Sau Peng .

NATURE COMMUNICATIONS, 2019, 10 (1)

[5] The international Genome sample resource (IGSR): A worldwide collection of genome variation incorporating the 1000 Genomes Project data [J].

Clarke, Laura ;

Fairley, Susan ;

Zheng-Bradley, Xiangqun ;

Streeter, Ian ;

Perry, Emily ;

Lowy, Ernesto ;

Tasse, Anne-Marie ;

Flicek, Paul .

NUCLEIC ACIDS RESEARCH, 2017, 45 (D1) :D854-D859

[6] BioSamples database: an updated sample metadata hub [J].

Courtot, Melanie ;

Cherubin, Luca ;

Faulconbridge, Adam ;

Vaughan, Daniel ;

Green, Matthew ;

Richardson, David ;

Harrison, Peter ;

Whetzel, Patricia L. ;

Parkinson, Helen ;

Burdett, Tony .

NUCLEIC ACIDS RESEARCH, 2019, 47 (D1) :D1172-D1178

[7] Ensembl 2019 [J].

Cunningham, Fiona ;

Achuthan, Premanand ;

Akanni, Wasiu ;

Allen, James ;

Amode, M. Ridwan ;

Armean, Irina M. ;

Bennett, Ruth ;

Bhai, Jyothish ;

Billis, Konstantinos ;

Boddu, Sanjay ;

Cummins, Carla ;

Davidson, Claire ;

Dodiya, Kamalkumar Jayantilal ;

Gall, Astrid ;

Giron, Carlos Garcia ;

Gil, Laurent ;

Grego, Tiago ;

Haggerty, Leanne ;

Haskell, Erin ;

Hourlier, Thibaut ;

Izuogu, Osagie G. ;

Janacek, Sophie H. ;

Juettemann, Thomas ;

Kay, Mike ;

Laird, Matthew R. ;

Lavidas, Ilias ;

Liu, Zhicheng ;

Loveland, Jane E. ;

Marugan, Jose C. ;

Maurel, Thomas ;

McMahon, Aoife C. ;

Moore, Benjamin ;

Morales, Joannella ;

Mudge, Jonathan M. ;

Nuhn, Michael ;

Ogeh, Denye ;

Parker, Anne ;

Parton, Andrew ;

Patricio, Mateus ;

Salam, Ahamed Imran Abdul ;

Schmitt, Bianca M. ;

Schuilenburg, Helen ;

Sheppard, Dan ;

Sparrow, Helen ;

Stapleton, Eloise ;

Szuba, Marek ;

Taylor, Kieron ;

Threadgold, Glen ;

Thormann, Anja ;

Vullo, Alessandro .

NUCLEIC ACIDS RESEARCH, 2019, 47 (D1) :D745-D751

[8] Analysis of protein-coding genetic variation in 60,706 humans [J].

Lek, Monkol ;

Karczewski, Konrad J. ;

Minikel, Eric V. ;

Samocha, Kaitlin E. ;

Banks, Eric ;

Fennell, Timothy ;

O'Donnell-Luria, Anne H. ;

Ware, James S. ;

Hill, Andrew J. ;

Cummings, Beryl B. ;

Tukiainen, Taru ;

Birnbaum, Daniel P. ;

Kosmicki, Jack A. ;

Duncan, Laramie E. ;

Estrada, Karol ;

Zhao, Fengmei ;

Zou, James ;

Pierce-Hollman, Emma ;

Berghout, Joanne ;

Cooper, David N. ;

Deflaux, Nicole ;

DePristo, Mark ;

Do, Ron ;

Flannick, Jason ;

Fromer, Menachem ;

Gauthier, Laura ;

Goldstein, Jackie ;

Gupta, Namrata ;

Howrigan, Daniel ;

Kiezun, Adam ;

Kurki, Mitja I. ;

Moonshine, Ami Levy ;

Natarajan, Pradeep ;

Orozeo, Lorena ;

Peloso, Gina M. ;

Poplin, Ryan ;

Rivas, Manuel A. ;

Ruano-Rubio, Valentin ;

Rose, Samuel A. ;

Ruderfer, Douglas M. ;

Shakir, Khalid ;

Stenson, Peter D. ;

Stevens, Christine ;

Thomas, Brett P. ;

Tiao, Grace ;

Tusie-Luna, Maria T. ;

Weisburd, Ben ;

Won, Hong-Hee ;

Yu, Dongmei ;

Altshuler, David M. .

NATURE, 2016, 536 (7616) :285-+

[9] Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly [J].

Schneider, Valerie A. ;

Graves-Lindsay, Tina ;

Howe, Kerstin ;

Bouk, Nathan ;

Chen, Hsiu-Chuan ;

Kitts, Paul A. ;

Murphy, Terence D. ;

Pruitt, Kim D. ;

Thibaud-Nissen, Francoise ;

Albracht, Derek ;

Fulton, Robert S. ;

Kremitzki, Milinn ;

Magrini, Vincent ;

Markovic, Chris ;

McGrath, Sean ;

Steinberg, Karyn Meltz ;

Auger, Kate ;

Chow, William ;

Collins, Joanna ;

Harden, Glenn ;

Hubbard, Timothy ;

Pelan, Sarah ;

Simpson, Jared T. ;

Threadgold, Glen ;

Torrance, James ;

Wood, Jonathan M. ;

Clarke, Laura ;

Koren, Sergey ;

Boitano, Matthew ;

Peluso, Paul ;

Li, Heng ;

Chin, Chen-Shan ;

Phillippy, Adam M. ;

Durbin, Richard ;

Wilson, Richard K. ;

Flicek, Paul ;

Eichler, Evan E. ;

Church, Deanna M. .

GENOME RESEARCH, 2017, 27 (05) :849-864

[10] An integrated map of structural variation in 2,504 human genomes [J].

Sudmant, Peter H. ;

Rausch, Tobias ;

Gardner, Eugene J. ;

Handsaker, Robert E. ;

Abyzov, Alexej ;

Huddleston, John ;

Zhang, Yan ;

Ye, Kai ;

Jun, Goo ;

Fritz, Markus Hsi-Yang ;

Konkel, Miriam K. ;

Malhotra, Ankit ;

Stuetz, Adrian M. ;

Shi, Xinghua ;

Casale, Francesco Paolo ;

Chen, Jieming ;

Hormozdiari, Fereydoun ;

Dayama, Gargi ;

Chen, Ken ;

Malig, Maika ;

Chaisson, Mark J. P. ;

Walter, Klaudia ;

Meiers, Sascha ;

Kashin, Seva ;

Garrison, Erik ;

Auton, Adam ;

Lam, Hugo Y. K. ;

Mu, Xinmeng Jasmine ;

Alkan, Can ;

Antaki, Danny ;

Bae, Taejeong ;

Cerveira, Eliza ;

Chines, Peter ;

Chong, Zechen ;

Clarke, Laura ;

Dal, Elif ;

Ding, Li ;

Emery, Sarah ;

Fan, Xian ;

Gujral, Madhusudan ;

Kahveci, Fatma ;

Kidd, Jeffrey M. ;

Kong, Yu ;

Lameijer, Eric-Wubbo ;

McCarthy, Shane ;

Flicek, Paul ;

Gibbs, Richard A. ;

Marth, Gabor ;

Mason, Christopher E. ;

Menelaou, Androniki .

NATURE, 2015, 526 (7571) :75-+

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