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%% This BibTeX bibliography file was created using BibDesk.
%% https://bibdesk.sourceforge.io/
%% Saved with string encoding Unicode (UTF-8)
@article{PMID:29448949,
abstract = {The accurate description of ancestry is essential to interpret, access, and integrate human genomics data, and to ensure that these benefit individuals from all ancestral backgrounds. However, there are no established guidelines for the representation of ancestry information. Here we describe a framework for the accurate and standardized description of sample ancestry, and validate it by application to the NHGRI-EBI GWAS Catalog. We confirm known biases and gaps in diversity, and find that African and Hispanic or Latin American ancestry populations contribute a disproportionately high number of associations. It is our hope that widespread adoption of this framework will lead to improved analysis, interpretation, and integration of human genomics data.},
author = {Morales, Joannella and Welter, Danielle and Bowler, Emily H and Cerezo, Maria and Harris, Laura W and McMahon, Aoife C and Hall, Peggy and Junkins, Heather A and Milano, Annalisa and Hastings, Emma and Malangone, Cinzia and Buniello, Annalisa and Burdett, Tony and Flicek, Paul and Parkinson, Helen and Cunningham, Fiona and Hindorff, Lucia A and MacArthur, Jacqueline A L},
date-added = {2022-06-24 16:55:39 +0100},
date-modified = {2022-06-24 16:55:39 +0100},
doi = {10.1186/s13059-018-1396-2},
issn = {1474-7596},
journal = {Genome biology},
month = {February},
number = {1},
pages = {21},
title = {A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog},
url = {https://europepmc.org/articles/PMC5815218},
volume = {19},
year = {2018},
bdsk-url-1 = {https://europepmc.org/articles/PMC5815218},
bdsk-url-2 = {https://doi.org/10.1186/s13059-018-1396-2}}
@article{Danecek:2011ut,
abstract = {SUMMARY: The variant call format (VCF) is a generic format for storing DNA polymorphism data such as SNPs, insertions, deletions and structural variants, together with rich annotations. VCF is usually stored in a compressed manner and can be indexed for fast data retrieval of variants from a range of positions on the reference genome. The format was developed for the 1000 Genomes Project, and has also been adopted by other projects such as UK10K, dbSNP and the NHLBI Exome Project. VCFtools is a software suite that implements various utilities for processing VCF files, including validation, merging, comparing and also provides a general Perl API. AVAILABILITY: http://vcftools.sourceforge.net},
address = {Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.},
author = {Danecek, Petr and Auton, Adam and Abecasis, Goncalo and Albers, Cornelis A and Banks, Eric and DePristo, Mark A and Handsaker, Robert E and Lunter, Gerton and Marth, Gabor T and Sherry, Stephen T and McVean, Gilean and Durbin, Richard},
cn = {1000 Genomes Project Analysis, Group},
crdt = {2011/06/10 06:00},
date = {2011 Aug 1},
date-added = {2022-06-24 16:50:20 +0100},
date-modified = {2022-06-24 16:50:20 +0100},
dcom = {20111007},
dep = {20110607},
doi = {10.1093/bioinformatics/btr330},
edat = {2011/06/10 06:00},
fir = {Durbin, Richard; Altshuler, David; Abecasis, Gon{\c c}alo; Bentley, David; Chakravarti, Aravinda; Clark, Andrew; De La Vega, Francisco; Donnelly, Peter; Dunn, Mark; Flicek, Paul; Gabriel, Stacey; Green, Eric; Gibbs, Richard; Knoppers, Bartha; Lander, Eric; Lehrach, Hans; Mardis, Elaine; Marth, Gabor; McVean, Gil; Nickerson, Debbie; Schmidt, Jeanett; Sherry, Stephen; Wang, Jun; Wilson, Rick; Knoppers, Bartha; Chakravarti, Aravinda; Abecasis, Gon{\c c}alo; Barnes, Kathleen; Bedoya, Gabriel; Brooks, Lisa; Bull, Susan; Burchard, Esteban; Bustamante, Carlos; Clemm, Nicholas; Conway, David; Corrah, Tumani; De La Vega, Francisco; Dunstan, Sarah; Dutil, Julie; Gallo, Carla; Garcia-Montero, Andres; Gharani, Neda; Gibbs, Richard; Gignoux, Chris; Gravel, Simon; Henn, Brenna; Heyderman, Rob; Humphray, Sean; Jallow, Muminatou; Jorde, Lynn; Kaye, Jane; Keinan, Alon; Kent, Alastair; Kumarasamy, Thangaraj; Kwiatkowski, Dominic; Lee, Clarence; Li, Ruiqiang; Li, Taosha; Martinez-Cruzado, Juan C; Mathias, Rasika; McGuire, Amy; McVean, Gil; McEwen, Jean; Moreno, Andres; Mullikin, Jim; Oleksyk, Taras; Ossorio, Pilar; Parker, Michael; Parra, Vicky; Poletti, Giovanni; Presgraves, Danielle; Reich, David; Rotimi, Charles; Ruiz-Linares, Andres; Saleheen, Danish; Joof, Fatoumatta Sisay; Su, Yeyang; Sudbrak, Ralf; Taylor, Herman; Timmermann, Bernd; Tishkoff, Sarah; Toji, Lorraine; Tyler-Smith, Chris; Via, Marc; Wang, Wei; Wilson, James; Yang, Gao; Yang, Ling; Mardis, Elaine; Gabriel, Stacey; Abecasis, Gon{\c c}alo; Ambrogio, Lauren; Balasubramaniam, Senduran; Belaia, Zinaida; Bentley, David; Blackwell, Tom; Borodina, Tatiana; Brooks, Lisa; Cibulskis, Kristian; Clarke, Laura; Clemm, Nicholas; Coffrey, Alison; Costa, Gina; Dahl, Andreas; Danecek, Petr; De La Vega, Francisco; Danecek, Petr; Durbin, Richard; Felsenfeld, Adam; Fennell, Tim; Flicek, Paul; Fulton, Lucinda; Gibbs, Richard; Humphray, Sean; Indap, Amit; Iqbal, Zam; Jaffe, David; Katzman, Sol; Keane, Thomas; Kuhn, Robert; Li, Ruiqiang; McCarthy, Shane; McKernan, Kevin; McVean, Gil; Metzker, Michael; Mertes, Florian; Muzny, Donna; Nickerson, Elizabeth; Nusbaum, Chad; Palotie, Aarno; Reid, Jeff; Shefler, Erica; Sherry, Stephen; Shumway, Martin; Smith, Richard; Soldatov, Aleksey; Sougnez, Carrie; Stalker, James; Sudbrak, Ralf; Swerdlow, Harold; Timmermann, Bernd; Wang, Jun; Weinstock, George; Wilson, Rick; Xiao, Chunlin; Yang, Henry; Bradley, Holly Zheng; McVean, Gil; Abecasis, Gon{\c c}alo; Abyzov, Alexej; Agarwala, Richa; Albers, Kees; Alkan, Can; Altshuler, David; Amstislavskiy, Vyacheslav; Anderson, Paul; del Angel, Guillermo; Arbiza, Leonardo; Auton, Adam; Awadalla, Philip; Ayub, Qasim; Bafna, Vineet; Bainbridge, Matthew; Balasubramaniam, Senduran; Ball, Aaron; Ball, Edward; Balasubramanian, Suganthi; Banks, Eric; Barrett, Jeffrey; Bashir, Ali; Batzer, Mark; Bauer, Markus; Bentley, David; Birney, Ewan; Blackburne, Ben; Blackwell, Tom; Blekhman, Ran; Bloom, Toby; Boyko, Adam; Bonnen, Penelope; Brisbin, Abra; Brooks, Lisa; Browning, Brian; Browning, Sharon; Bustamante, Carlos; Byrnes, Jake; Cappellieri, Alison; Caccamo, Mario; Cardin, Niall; Chakravarti, Aravinda; Challis, Danny; Cheetham, Keira; Chen, Ken; Chen, Yuan; Chen, Wei; Chinwalla, Asif; Christoforides, Alexis; Cibulskis, Kristian; Clark, Andrew; Clarke, Laura; Clemm, Nicholas; Coarfa, Cristian; Coffrey, Alison; Conrad, Don; Cox, Tony; Craig, David; Curran, Melinda; Daly, Mark; Danecek, Petr; de Bakker, Paul; Degenhardt, Jeremiah; De La Vega, Francisco; DePristo, Mark; Dermitzakis, Manolis; Ding, Jun; Ding, Li; Donnelly, Peter; Dooling, David; Du, Jiang; Durbin, James; Durbin, Richard; Eberle, Michael; Eichler, Evan; Fallon, Victoria; Fennell, Tim; Flicek, Paul; Freeman, Colin; Fromer, Menachem; Fu, Yunxin; Fu, Yutao; Gabriel, Stacey; Gaffney, Daniel; Garimella, Kiran; Garrison, Erik; Gerstein, Mark; Gibbs, Richard; Gottipati, Srikanth; Gravel, Simon; Greer, Douglas; Grossman, Shari; Grubert, Fabian; Gutenkunst, Ryan; Ha, Gavin; Habegger, Lukas; Haimel, Matthias; Hajirasouliha, Iman; Handsaker, Bob; Hanna, Matt; Hansen, Nancy; Haraksingh, Rajini; Hartl, Chris; Haussler, David; Henn, Brenna; Hernandez, Ryan; Herrero, Javier; Herwig, Ralf; Hinrichs, Angie; Homer, Nils; Hormozdiari, Fereydoun; Howie, Bryan; Hu, Min; Huang, Ni; Huang, Weichun; Humphray, Sean; Hurles, Matt; Hyland, Fiona; Indap, Amit; Iqbal, Zam; Izatt, Tyler; Jaffe, David; Jin, Hanjun; Jones, Steven; Jorde, Lynn; Jostins, Luke; Kaganovich, Mark; Kahn, Scott; Kang, Hyun Min; Kang, Jia; Katzman, Sol; Keane, Thomas; Keebler, John; Kelley, Joanna; Kent, Jim; Keinan, Alon; Kern, Andrew; Kernytsky, Andrew; Kersey, Paul; Khurana, Ekta; Kidd, Jeff; Ko, Arthur; Koboldt, Dan; Konkel, Miriam; Korbel, Jan; Korn, Joshua; Kuhn, Robert; Kural, Deniz; Kurdoglu, Ahmet; Lacroute, Phil; Lam, Hugo; Lander, Eric; Lappalainen, Tuuli; Le, Quang; Lee, Charles; Lee, Joe; Lee, Joonsang; Lee, Wan-Ping; Leng, Jing; Leong, Wen Fung; Li, Bingshan; Li, Guoqing; Li, Heng; Li, Lun; Li, Ruiqiang; Li, Yingrui; Li, Yun; Liang, Liming; Lohmueller, Kirk; Long, James; Long, Quan; Lunter, Gerton; Ma, Xin; MacArthur, Daniel; Maguire, Jared; Majumder, Partha; Makarov, Vladimir; Marchini, Jonathan; Mardis, Elaine; Marioni, John; Marth, Gabor; McCarroll, Steve; McCarthy, Shane; McKenna, Aaron; McLellan, Mike; Melton, Cord; Merriman, Barry; Mills, Ryan; Montgomery, Stephen; Moutsianas, Loukas; Mu, Xinmeng; Mullikin, Jim; Murray, Lisa; Musharoff, Shaila; Muzny, Donna; Myers, Simon; Nelson, Stan; Nemesh, James; Nickerson, Elizabeth; Nielsen, Rasmus; Ning, Zemin; Parkhomchuk, Dmitri; Parkhomenko, Elena; Paschall, Justin; Pearson, John; Peckham, Heather; Poplin, Ryan; Presgraves, Danielle; Pickrell, Joseph; Price, Alkes; Pritchard, Jonathan; Przeworski, Molly; Purcell, Shaun; Quinlan, Aaron; Reid, Jeff; Rivas, Manuel; Rosenfeld, Jeffrey; Ruiz-Linares, Andres; Sabeti, Pardis; Sabo, Aniko; Sajjadian, Saba; Sakarya, Onur; Scally, Aylwyn; Schaffner, Steven; Scheet, Paul; Sebat, Jonathan; Shakir, Khalid; Sharpe, Ted; Shaw, Richard; Shefler, Erica; Sherry, Stephen; Shi, Xinghua Mindy; Shlyakhter, Ilya; Shumway, Martin; Sinari, Shripad; Sivachenko, Andrey; Smith, Richard; Snyder, Matthew; Snyder, Michael; Sougnez, Carrie; Squire, Kevin; Stalker, James; Stephens, Matthew; Stewart, Chip; Stromberg, Michael; Su, Yeyang; Sudbrak, Ralf; Sudmant, Peter; Sun, Yongming; Taylor, Paige; Thomas, Daryl; Tishkoff, Sarah; Tsung, Eric; Tyler-Smith, Chris; Urban, Alexander; Vincenza, Colonna; Wallis, John; Walker, Jerilyn; Walter, Klaudia; Wan, Zhengzheng; Wang, Jun; Wang, Wei; Wang, Yi; Wang, Yong; Ward, Alistair; Webster, Teresa; Weinstock, George; Wendl, Mike; Wheeler, David; Wong, Yang; Wu, Jiantao; Xiao, Chunlin; Xing, Jinchuan; Xue, Yali; Yan, Xiting; Ye, Kai; Ye, Kenny; Yoon, Seungtai; Yu, Fuli; Yu, Jin; Zerbino, Daniel; Zhan, Xiaowei; Zhan, Yiping; Zhang, Kangyu; Zhang, Qunyuan; Zhang, Yujun; Zhao, Hongyu; Zhang, Clarence Kangyu; Zhang, Zhengdong; Bradley, Holly Zheng; Zheng, Wei; Zody, Michael; Zoellner, Sebastian; Flicek, Paul; Sherry, Stephen; Abecasis, Gon{\c c}alo; Alkan, Can; Balasubramaniam, Senduran; Birney, Ewan; Bloom, Toby; Brockington, Caren; Cibulskis, Kristian; Clarke, Laura; Cochrane, Guy; Cox, Tony; Craig, David; De La Vega, Francisco; Dooling, David; Fennell, Tim; Gibbs, Richard; Haussler, David; Hinrichs, Angie; Humphray, Sean; Iqbal, Zam; Jamieson, Ruth; Kahn, Scott; Katzman, Sol; Keane, Thomas; Kent, Jim; Kern, Andrew; Ko, Arthur; Kuhn, Robert; Li, Guoqing; Li, Ruiqiang; Manning, Jonathan; McCarthy, Shane; McVean, Gil; Metzker, Michael; Muzny, Donna; Nietfeld, Wilfiried; Paschal, Justin; Peckham, Heather; Reid, Jeff; Sajjadian, Saba; Sanders, Robert; Sherry, Stephen; Shumway, Martin; Skelly, Tom; Smith, Richard; Stalker, James; Sudbrak, Ralf; Wang, Jun; Weinstock, George; Wilkinson, Jane; Xiao, Chunlin; Bradley, Holly Zheng; Amstislavskiy, Vyacheslav; Deiros, David; Freeman, Colin; McVean, Gil; Przeworski, Molly; Przeworski, Molly; Abecasis, Gon{\c c}alo; Arbiza, Leonardo; Auton, Adam; Ayub, Qasim; Balasubramanian, Suganthi; Barrett, Jeffrey; Blekham, Ran; Boyko, Adam; Bustamante, Carlos; Byrnes, Jake; Chakravarti, Aravinda; Clark, Andy; Conrad, Don; Craig, David; Dermitzakis, Manolis; Durbin, Richard; Fu, Yunxin; Gabriel, Stacey; Garrison, Erik; Gerstein, Mark; Gottipati, Srikanth; Gravel, Simon; Grossman, Shari; Gutenkunst, Ryan; Habegger, Lukas; Handsaker, Bob; Henn, Brenna; Hernandez, Ryan; Howie, Bryan; Hu, Min; Huang, Ni; Hurles, Matt; Iqbal, Zam; Indap, Amit; Jin, Hanjun; Jostins, Luke; Kang, Jia; Katzman, Sol; Keinan, Alon; Kelley, Joanna; Khurana, Ekta; Kidd, Jeffrey; Lacroute, Phil; Lee, Joonsang; Leng, Jing; Li, Bingshan; Li, Heng; Li, Lun; Long, Quan; Lunter, Gerton; MacArthur, Daniel; Melton, Cord; Montgomery, Stephen; Mu, Xinmeng; Musharoff, Shaila; Nielsen, Rasmus; Presgraves, Danielle; Pritchard, Jonathan; Sabeti, Pardis; Shlyakhter, Ilya; Snyder, Michael; Tyler-Smith, Chris; Wang, Wei; Zhang, Clarence Kangyu; Zhang, Zhengdong; Zhao, Hongyu; Eichler, Evan; Hurles, Matt; Lee, Charles; Abyzov, Alexej; Alkan, Can; del Angel, Guillermo; Bafna, Vineet; Banks, Eric; Bashir, Ali; Batzer, Mark; Birney, Ewan; Blackburne, Ben; Blackwell, Tom; Caccamo, Mario; Cardin, Niall; Cheetham, Keira; Chen, Ken; Chinwalla, Asif; Clarke, Laura; Conrad, Don; Craig, David; Degenhardt, Jeremiah; De La Vega, Francisco; DePristo, Mark; Ding, Li; Fromer, Menachem; Fu, Yutao; Garrison, Erik; Gerstein, Mark; Greer, Douglas; Grubert, Fabian; Ha, Gavin; Haimel, Matthias; Hajirasouliha, Iman; Handsaker, Bob; Haraksingh, Rajini; Hartl, Chris; Homer, Nils; Hormozdiari, Fereydoun; Humphray, Sean; Iqbal, Zamin; Jones, Steven; Kaganovich, Mark; Kahn, Scott; Kersey, Paul; Khurana, Ekta; Kidd, Jeff; Ko, Arthur; Konkel, Miriam; Korbel, Jan; Korn, Joshua; Kural, Deniz; Lacroute, Phil; Lam, Hugo; Lee, Joe; Leng, Jing; Li, Heng; Li, Yingrui; Lunter, Gerton; Marth, Gabor; McCarroll, Steve; McLellan, Mike; Mills, Ryan; Makarov, Vladimir; Mu, Xinmeng; Murray, Lisa; Nelson, Stan; Nemesh, James; Ning, Zemin; Parkhomenko, Elena; Peckham, Heather; Quinlan, Aaron; Sajjadian, Saba; Scally, Aylwyn; Sebat, Jonathan; Shakir, Khalid; Shaw, Richard; Snyder, Matthew; Snyder, Michael; Stewart, Chip; Stromberg, Michael; Sudmant, Peter; Sun, Yongming; Thomas, Daryl; Urban, Alexander; Wallis, John; Walker, Jerilyn; Walter, Klaudia; Ward, Alistair; Wu, Jiantao; Xiao, Chunlin; Xing, Jinchuan; Ye, Kai; Yoon, Seungtai; Zerbino, Daniel; Zhang, Yujun; Zhang, Zhengdong; Bradley, Holly Zheng; Gibbs, Richard; Marth, Gabor; Abecasis, Goncalo; Albers, Kees; Bainbridge, Matthew; Balasubramaniam, Senduran; Balasubramanian, Suganthi; Blackwell, Tom; Bustamanter, Carlos; Challis, Danny; Cibulskis, Kristian; Clark, Andrew; Clarke, Laura; Coarfa, Cristian; Coffrey, Alison; DePristo, Mark; Dermitzakis, Manolis; Dooling, David; Durbin, Richard; Fennell, Tim; Flicek, Paul; Fulton, Lucinda; Fulton, Robert; Gabriel, Stacey; Garimella, Kiran; Garrison, Erik; Gibbs, Richard; Gravel, Simon; Hartl, Chris; Indap, Amit; Iqbal, Zamin; Katzman, Sol; Keane, Thomas; Koboldt, Dan; Leong, Wen Fung; MacArthur, Daniel; Mardis, Elaine; McVean, Gil; Muzny, Donna; Nickerson, Elizabeth; Palotie, Aarno; Paschall, Justin; Reid, Jeff; Quinlan, Aaron; Sabo, Aniko; Shefler, Erica; Sherry, Steve; Shumway, Martin; Smith, Richard; Sougnez, Carrie; Stalker, Jim; Sudmant, Peter; Tyler-Smith, Chris; Wang, Yi; Wang, Yong; Wilkinson, Jane; Xiao, Chunlin; Yu, Fuli; Bradley, Holly Zheng; Brooks, Lisa; Felsenfeld, Adam; McEwen, Jean; Clemm, Nicholas; Duncanson, Audrey; Dunn, Mark; Eichler, Evan; Guyer, Mark; Hurles, Matthew; Hyland, Fiona; Jamieson, Ruth; K{\"a}lin, Nanette; Kang, Le; Laplace, Frank; Lee, Charles; Liu, Yingli; Michelson, Alan; Peterson, Jane; Ren, Zhiwu; Wang, Jian},
gr = {RG/09/012/28096/BHF{\_}/British Heart Foundation/United Kingdom; 075491/Z/04/WT{\_}/Wellcome Trust/United Kingdom; RG/09/012/28096/WT{\_}/Wellcome Trust/United Kingdom; 54 HG003067/HG/NHGRI NIH HHS/United States; U01 HG005208/HG/NHGRI NIH HHS/United States; 090532/Wellcome Trust/United Kingdom; ImNIH/Intramural NIH HHS/United States; R01 HG004719/HG/NHGRI NIH HHS/United States; 086084/Wellcome Trust/United Kingdom},
ir = {Durbin R; Altshuler D; Abecasis G; Bentley D; Chakravarti A; Clark A; De La Vega F; Donnelly P; Dunn M; Flicek P; Gabriel S; Green E; Gibbs R; Knoppers B; Lander E; Lehrach H; Mardis E; Marth G; McVean G; Nickerson D; Schmidt J; Sherry S; Wang J; Wilson R; Knoppers B; Chakravarti A; Abecasis G; Barnes K; Bedoya G; Brooks L; Bull S; Burchard E; Bustamante C; Clemm N; Conway D; Corrah T; De La Vega F; Dunstan S; Dutil J; Gallo C; Garcia-Montero A; Gharani N; Gibbs R; Gignoux C; Gravel S; Henn B; Heyderman R; Humphray S; Jallow M; Jorde L; Kaye J; Keinan A; Kent A; Kumarasamy T; Kwiatkowski D; Lee C; Li R; Li T; Martinez-Cruzado JC; Mathias R; McGuire A; McVean G; McEwen J; Moreno A; Mullikin J; Oleksyk T; Ossorio P; Parker M; Parra V; Poletti G; Presgraves D; Reich D; Rotimi C; Ruiz-Linares A; Saleheen D; Joof FS; Su Y; Sudbrak R; Taylor H; Timmermann B; Tishkoff S; Toji L; Tyler-Smith C; Via M; Wang W; Wilson J; Yang G; Yang L; Mardis E; Gabriel S; Abecasis G; Ambrogio L; Balasubramaniam S; Belaia Z; Bentley D; Blackwell T; Borodina T; Brooks L; Cibulskis K; Clarke L; Clemm N; Coffrey A; Costa G; Dahl A; Danecek P; De La Vega F; Danecek P; Durbin R; Felsenfeld A; Fennell T; Flicek P; Fulton L; Gibbs R; Humphray S; Indap A; Iqbal Z; Jaffe D; Katzman S; Keane T; Kuhn R; Li R; McCarthy S; McKernan K; McVean G; Metzker M; Mertes F; Muzny D; Nickerson E; Nusbaum C; Palotie A; Reid J; Shefler E; Sherry S; Shumway M; Smith R; Soldatov A; Sougnez C; Stalker J; Sudbrak R; Swerdlow H; Timmermann B; Wang J; Weinstock G; Wilson R; Xiao C; Yang H; Bradley HZ; McVean G; Abecasis G; Abyzov A; Agarwala R; Albers K; Alkan C; Altshuler D; Amstislavskiy V; Anderson P; del Angel G; Arbiza L; Auton A; Awadalla P; Ayub Q; Bafna V; Bainbridge M; Balasubramaniam S; Ball A; Ball E; Balasubramanian S; Banks E; Barrett J; Bashir A; Batzer M; Bauer M; Bentley D; Birney E; Blackburne B; Blackwell T; Blekhman R; Bloom T; Boyko A; Bonnen P; Brisbin A; Brooks L; Browning B; Browning S; Bustamante C; Byrnes J; Cappellieri A; Caccamo M; Cardin N; Chakravarti A; Challis D; Cheetham K; Chen K; Chen Y; Chen W; Chinwalla A; Christoforides A; Cibulskis K; Clark A; Clarke L; Clemm N; Coarfa C; Coffrey A; Conrad D; Cox T; Craig D; Curran M; Daly M; Danecek P; de Bakker P; Degenhardt J; De La Vega F; DePristo M; Dermitzakis M; Ding J; Ding L; Donnelly P; Dooling D; Du J; Durbin J; Durbin R; Eberle M; Eichler E; Fallon V; Fennell T; Flicek P; Freeman C; Fromer M; Fu Y; Fu Y; Gabriel S; Gaffney D; Garimella K; Garrison E; Gerstein M; Gibbs R; Gottipati S; Gravel S; Greer D; Grossman S; Grubert F; Gutenkunst R; Ha G; Habegger L; Haimel M; Hajirasouliha I; Handsaker B; Hanna M; Hansen N; Haraksingh R; Hartl C; Haussler D; Henn B; Hernandez R; Herrero J; Herwig R; Hinrichs A; Homer N; Hormozdiari F; Howie B; Hu M; Huang N; Huang W; Humphray S; Hurles M; Hyland F; Indap A; Iqbal Z; Izatt T; Jaffe D; Jin H; Jones S; Jorde L; Jostins L; Kaganovich M; Kahn S; Kang HM; Kang J; Katzman S; Keane T; Keebler J; Kelley J; Kent J; Keinan A; Kern A; Kernytsky A; Kersey P; Khurana E; Kidd J; Ko A; Koboldt D; Konkel M; Korbel J; Korn J; Kuhn R; Kural D; Kurdoglu A; Lacroute P; Lam H; Lander E; Lappalainen T; Le Q; Lee C; Lee J; Lee J; Lee WP; Leng J; Leong WF; Li B; Li G; Li H; Li L; Li R; Li Y; Li Y; Liang L; Lohmueller K; Long J; Long Q; Lunter G; Ma X; MacArthur D; Maguire J; Majumder P; Makarov V; Marchini J; Mardis E; Marioni J; Marth G; McCarroll S; McCarthy S; McKenna A; McLellan M; Melton C; Merriman B; Mills R; Montgomery S; Moutsianas L; Mu X; Mullikin J; Murray L; Musharoff S; Muzny D; Myers S; Nelson S; Nemesh J; Nickerson E; Nielsen R; Ning Z; Parkhomchuk D; Parkhomenko E; Paschall J; Pearson J; Peckham H; Poplin R; Presgraves D; Pickrell J; Price A; Pritchard J; Przeworski M; Purcell S; Quinlan A; Reid J; Rivas M; Rosenfeld J; Ruiz-Linares A; Sabeti P; Sabo A; Sajjadian S; Sakarya O; Scally A; Schaffner S; Scheet P; Sebat J; Shakir K; Sharpe T; Shaw R; Shefler E; Sherry S; Shi XM; Shlyakhter I; Shumway M; Sinari S; Sivachenko A; Smith R; Snyder M; Snyder M; Sougnez C; Squire K; Stalker J; Stephens M; Stewart C; Stromberg M; Su Y; Sudbrak R; Sudmant P; Sun Y; Taylor P; Thomas D; Tishkoff S; Tsung E; Tyler-Smith C; Urban A; Vincenza C; Wallis J; Walker J; Walter K; Wan Z; Wang J; Wang W; Wang Y; Wang Y; Ward A; Webster T; Weinstock G; Wendl M; Wheeler D; Wong Y; Wu J; Xiao C; Xing J; Xue Y; Yan X; Ye K; Ye K; Yoon S; Yu F; Yu J; Zerbino D; Zhan X; Zhan Y; Zhang K; Zhang Q; Zhang Y; Zhao H; Zhang CK; Zhang Z; Bradley HZ; Zheng W; Zody M; Zoellner S; Flicek P; Sherry S; Abecasis G; Alkan C; Balasubramaniam S; Birney E; Bloom T; Brockington C; Cibulskis K; Clarke L; Cochrane G; Cox T; Craig D; De La Vega F; Dooling D; Fennell T; Gibbs R; Haussler D; Hinrichs A; Humphray S; Iqbal Z; Jamieson R; Kahn S; Katzman S; Keane T; Kent J; Kern A; Ko A; Kuhn R; Li G; Li R; Manning J; McCarthy S; McVean G; Metzker M; Muzny D; Nietfeld W; Paschal J; Peckham H; Reid J; Sajjadian S; Sanders R; Sherry S; 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issn = {1367-4811 (Electronic); 1367-4803 (Print); 1367-4803 (Linking)},
jid = {9808944},
journal = {Bioinformatics},
jt = {Bioinformatics (Oxford, England)},
language = {eng},
lid = {10.1093/bioinformatics/btr330 {$[$}doi{$]$}},
lr = {20220410},
mh = {Alleles; *Genetic Variation; Genome, Human; Genomics/*methods; Genotype; Humans; Information Storage and Retrieval/*methods; *Software},
mhda = {2011/10/08 06:00},
month = {Aug},
number = {15},
own = {NLM},
pages = {2156--2158},
phst = {2011/06/10 06:00 {$[$}entrez{$]$}; 2011/06/10 06:00 {$[$}pubmed{$]$}; 2011/10/08 06:00 {$[$}medline{$]$}},
pii = {btr330},
pmc = {PMC3137218},
pmid = {21653522},
pst = {ppublish},
pt = {Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't},
sb = {IM},
status = {MEDLINE},
title = {The variant call format and VCFtools.},
volume = {27},
year = {2011},
bdsk-url-1 = {https://doi.org/10.1093/bioinformatics/btr330}}