A map of human genome variation from population-scale sequencing

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., Jaffe, David B., Shefler, Erica, Sougnez, Carrie L., Bentley, David R., Gormley, Niall, Humphray, Sean, Kingsbury, Zoya, Koko-Gonzales, Paula, Stone, Jennifer, McKernan, Kevin J., Costa, Gina L., Ichikawa, Jeffry K., Lee, Clarence C., Sudbrak, Ralf, Lehrach, Hans, Borodina, Tatiana A., Dahl, Andreas, Davydov, Alexey N., Marquardt, Peter, Mertes, Florian, Nietfeld, Wilfiried, Rosenstiel, Philip, Schreiber, Stefan, Soldatov, Aleksey V., Timmermann, Bernd, Tolzmann, Marius, Egholm, Michael, Affourtit, Jason, Ashworth, Dana, Attiya, Said, Bachorski, Melissa, Buglione, Eli, Burke, Adam, Caprio, Amanda, Celone, Christopher, Clark, Shauna, Conners, David, Desany, Brian, Gu, Lisa, Guccione, Lorri, Kao, Kalvin, Kebbel, Andrew, Knowlton, Jennifer, Labrecque, Matthew, McDade, Louise, Mealmaker, Craig, Minderman, Melissa, Nawrocki, Anne, Niazi, Faheem, Pareja, Kristen, Ramenani, Ravi, Riches, David, Song, Wanmin, Turcotte, Cynthia, Wang, Shally, Mardis, Elaine R., Dooling, David, Fulton, Lucinda, Fulton, Robert, Weinstock, George, Durbin, Richard M., Burton, John, Carter, David M., Churcher, Carol, Coffey, Alison, Cox, Anthony, Palotie, Aarno, Quail, Michael, Skelly, Tom, Stalker, James, Swerdlow, Harold P., Turner, Daniel, De Witte, Anniek, Giles, Shane, Gibbs, Richard A., Wheeler, David, Bainbridge, Matthew, Challis, Danny, Sabo, Aniko, Yu, Fuli, Yu, Jin, Wang, Jun, Fang, Xiaodong, Guo, Xiaosen, Li, Ruiqiang, Li, Yingrui, Luo, Ruibang, Tai, Shuaishuai, Wu, Honglong, Zheng, Hancheng, Zheng, Xiaole, Zhou, Yan, Yang, Huanming, Marth, Gabor T., Garrison, Erik P., Huang, Weichun, Indap, Amit, Kural, Deniz, Lee, Wan-Ping, Leong, Wen Fung, Huang, Weichun, Indap, Amit, Kural, Deniz, Lee, Wan-Ping, Leong, Wen Fung, Quinlan, Aaron R., Stewart, Chip, Stromberg, Michael P., Ward, Alistair N., Wu, Jiantao, Lee, Charles, Mills, Ryan E., Shi, Xinghua, Daly, Mark J., DePristo, Mark A., Altshuler, David L., Ball, Aaron D., Banks, Eric, Bloom, Toby, Browning, Brian L., Cibulskis, Kristian, Fennell, Tim J., Garimella, Kiran V., Grossman, Sharon R., Handsaker, Robert E., Hanna, Matt, Hartl, Chris, Jaffe, David B., Kernytsky, Andrew M., Korn, Joshua M., Li, Heng, Maguire, Jared R., McCarroll, Steven A., McKenna, Aaron, Nemesh, James C., Philippakis, Anthony A., Poplin, Ryan E., Price, Alkes, Rivas, Manuel A., Sabeti, Pardis C., Schaffner, Stephen F., Shefler, Erica, Shlyakhter, Ilya A., Cooper, David N., Ball, Edward V., Mort, Matthew, Phillips, Andrew D., Stenson, Peter D., Sebat, Jonathan, Makarov, Vladimir, Ye, Kenny, Yoon, Seungtai C., Bustamante, Carlos D., Clark, Andrew G., Boyko, Adam, Degenhardt, Jeremiah, Gravel, Simon, Gutenkunst, Ryan N., Kaganovich, Mark, Keinan, Alon, Lacroute, Phil, Ma, Xia, Reynolds, Andy, Clarke, Laura, Flicek, Paul, Cunningham, Fiona, Herrero, Javier, Keenen, Stephen, Kulesha, Eugene, Leinonen, Rasko, McLaren, WilliamM., Radhakrishnan, Rajesh, Smith, Richard E., Zalunin, Vadim, Zheng-Bradley, Xiangqun, Korbel, Jan O., Stuetz, Adrian M., Humphray, Sean, Bauer, Markus, Cheetham, R. Keira, Cox, Tony, Eberle, Michael, James, Terena, Kahn, Scott, Murray, Lisa, Ye, Kai, De La Vega, Francisco M., Fu, Yutao, Hyland, Fiona C. L., Manning, Jonathan M., McLaughlin, Stephen F., Peckham, Heather E., Sakarya, Onur, Sun, Yongming A., Tsung, Eric F., Batzer, Mark A., Konkel, Miriam K., Walker, Jerilyn A., Sudbrak, Ralf, Albrecht, Marcus W., Amstislavskiy, Vyacheslav S., Herwig, Ralf, Parkhomchuk, Dimitri V., Sherry, Stephen T., Agarwala, Richa, Khouri, Hodam., Morgulis, Aleksandr O., Paschall, Justin E., Phan, Lon D., Rotmistrovsky, Kirill E., Sanders, Robert D., Shumway, Martin F., Xiao, Chunlin, McVean, Gil A., Auton, Adam, Iqbal, Zamin, Lunter, Gerton, Marchini, Jonathan L., Moutsianas, Loukas, Myers, Simon, Tumian, Afidalina, Desany, Brian, Knight, James, Winer, Roger, Craig, David W., Beckstrom-Sternberg, Steve M., Christoforides, Alexis, Kurdoglu, Ahmet A., Pearson, Johnv., Sinari, Shripad A., Tembe, Waibhav D., Haussler, David, Hinrichs, Angie S., Katzman, Sol J., Kern, Andrew, Kuhn, Robert M., Przeworski, Molly, Hernandez, Ryan D., Howie, Bryan, Kelley, Joanna L., Melton, S. Cord, Abecasis, Goncalo R., Li, Yun, Anderson, Paul, Blackwell, Tom, Chen, Wei, Cookson, William O., Ding, Jun, Kang, Hyun Min, Lathrop, Mark, Liang, Liming, Moffatt, Miriam F., Scheet, Paul, Sidore, Carlo, Snyder, Matthew, Zhan, Xiaowei, Zoellner, Sebastian, Awadalla, Philip, Casals, Ferran, Idaghdour, Youssef, Keebler, John, Stone, Eric A., Zilversmit, Martine, Jorde, Lynn, Xing, Jinchuan, Eichler, Evan E., Aksay, Gozde, Alkan, Can, Hajirasouliha, Iman, Hormozdiari, Fereydoun, Kidd, Jeffrey M., Sahinalp, S. Cenk, Sudmant, Peter H., Mardis, Elaine R., Chen, Ken, Chinwalla, Asif, Ding, Li, Koboldt, Daniel C., McLellan, Mike D., Dooling, David, Weinstock, George, Wallis, John W., Wendl, Michael C., Zhang, Qunyuan, Durbin, Richard M., Albers, Cornelis A., Ayub, Qasim, Balasubramaniam, Senduran, Barrett, Jeffrey C., Carter, David M., Chen, Yuan, Conrad, Donald F., Danecek, Petr, Dermitzakis, Emmanouil T., Hu, Min, Huang, Ni, Hurles, Matt E., Jin, Hanjun, Jostins, Luke, Keane, Thomas M., Keane, Thomas M., Le, Si Quang, Lindsay, Sarah, Long, Quan, MacArthur, Daniel G., Montgomery, Stephen B., Parts, Leopold, Stalker, James, Tyler-Smith, Chris, Walter, Klaudia, Zhang, Yujun, Gerstein, Mark B., Snyder, Michael, Abyzov, Alexej, Abyzov, Alexej, Balasubramanian, Suganthi, Bjornson, Robert, Du, Jiang, Grubert, Fabian, Habegger, Lukas, Haraksingh, Rajini, Jee, Justin, Khurana, Ekta, Lam, Hugo Y. K., Leng, Jing, Mu, Xinmeng Jasmine, Urban, Alexander E., Zhang, Zhengdong, Li, Yingrui, Luo, Ruibang, Marth, Gabor T., Garrison, Erik P., Kural, Deniz, Quinlan, Aaron R., Stewart, Chip, Stromberg, Michael P., Ward, Alistair N., Wu, Jiantao, Lee, Charles, Mills, Ryan E., Shi, Xinghua, McCarroll, Steven A., Banks, Eric, DePristo, Mark A., Handsaker, Robert E., Hartl, Chris, Korn, Joshua M., Li, Heng, Nemesh, James C., Sebat, Jonathan, Makarov, Vladimir, Ye, Kenny, Yoon, Seungtai C., Degenhardt, Jeremiah, Kaganovich, Mark, Clarke, Laura, Smith, Richard E., Zheng-Bradley, Xiangqun, Korbel, Jan O., Humphray, Sean, Cheetham, R. Keira, Eberle, Michael, Kahn, Scott, Murray, Lisa, Ye, Kai, De la Vega, Francisco M., Fu, Yutao, Peckham, Heather E., Sun, Yongming A., Batzer, Mark A., Konkel, Miriam K., Xiao, Chunlin, Iqbal, Zamin, Desany, Brian, Blackwell, Tom, Snyder, Matthew, Xing, Jinchuan, Eichler, Evan E., Aksay, Gozde, Alkan, Can, Hajirasouliha, Iman, Hormozdiari, Fereydoun, Kidd, Jeffrey M., Chen, Ken, Chinwalla, Asif, Ding, Li, McLellan, Mike D., Wallis, John W., Hurles, Matt E., Conrad, Donald F., Walter, Klaudia, Zhang, Yujun, Gerstein, Mark B., Snyder, Michael, Abyzov, Alexej, Du, Jiang, Grubert, Fabian, Haraksingh, Rajini, Jee, Justin, Khurana, Ekta, Lam, Hugo Y. K., Leng, Jing, Mu, Xinmeng Jasmine, Urban, Alexander E., Zhang, Zhengdong, Gibbs, Richard A., Bainbridge, Matthew, Challis, Danny, Coafra, Cristian, Dinh, Huyen, Kovar, Christie, Lee, Sandy, Muzny, Donna, Nazareth, Lynne, Reid, Jeff, Sabo, Aniko, Yu, Fuli, Yu, Jin, Marth, Gabor T., Garrison, Erik P., Indap, Amit, Leong, Wen Fung, Quinlan, Aaron R., Stewart, Chip, Ward, Alistair N., Wu, Jiantao, Cibulskis, Kristian, Fennell, Tim J., Gabriel, Stacey B., Garimella, Kiran V., Hartl, Chris, Shefler, Erica, Sougnez, Carrie L., Wilkinson, Jane, Clark, Andrew G., Gravel, Simon, Grubert, Fabian, Clarke, Laura, Flicek, Paul, Smith, Richard E., Zheng-Bradley, Xiangqun, Sherry, Stephen T., Khouri, Hoda M., Paschall, Justin E., Shumway, Martin F., Xiao, Chunlin, McVean, Gil A., Katzman, Sol J., Abecasis, Goncalo R., Blackwell, Tom, Mardis, Elaine R., Dooling, David, Fulton, Lucinda, Fulton, Robert, Koboldt, Daniel C., Durbin, Richard M., Balasubramaniam, Senduran, Coffey, Allison, Keane, Thomas M., MacArthur, Daniel G., Palotie, Aarno, Scott, Carol, Stalker, James, Tyler-Smith, Chris, Gerstein, Mark B., Balasubramanian, Suganthi, Chakravarti, Aravinda, Knoppers, Bartha M., Peltonen, Leena, Abecasis, Goncalo R., Bustamante, Carlos D., Gharani, Neda, Gibbs, Richard A., Jorde, Lynn, Kaye, Jane S., Kent, Alastair, Li, Taosha, McGuire, Amy L., McVean, Gil A., Ossorio, Pilar N., Rotimi, Charles N., Su, Yeyang, Toji, Lorraine H., Tyler-Smith, Chris, Brooks, Lisa D., Felsenfeld, Adam L., McEwen, Jean E., Abdallah, Assya, Juenger, Christopher R., Clemm, Nicholas C., Collins, Francis S., Duncanson, Audrey, Green, Eric D., Guyer, Mark S., Peterson, Jane L., Schafer, Alan J., Abecasis, Goncalo R., Altshuler, David L., Auton, Adam, Brooks, Lisa D., Durbin, Richard M., Gibbs, Richard A., Hurles, Matt E. and McVean, Gil A. (2010) A map of human genome variation from population-scale sequencing. Nature, 467 7319: 1061-1073. doi:10.1038/nature09534


Author 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.
Jaffe, David B.
Shefler, Erica
Sougnez, Carrie L.
Bentley, David R.
Gormley, Niall
Humphray, Sean
Kingsbury, Zoya
Koko-Gonzales, Paula
Stone, Jennifer
McKernan, Kevin J.
Costa, Gina L.
Ichikawa, Jeffry K.
Lee, Clarence C.
Sudbrak, Ralf
Lehrach, Hans
Borodina, Tatiana A.
Dahl, Andreas
Davydov, Alexey N.
Marquardt, Peter
Mertes, Florian
Nietfeld, Wilfiried
Rosenstiel, Philip
Schreiber, Stefan
Soldatov, Aleksey V.
Timmermann, Bernd
Tolzmann, Marius
Egholm, Michael
Affourtit, Jason
Ashworth, Dana
Attiya, Said
Bachorski, Melissa
Buglione, Eli
Burke, Adam
Caprio, Amanda
Celone, Christopher
Clark, Shauna
Conners, David
Desany, Brian
Gu, Lisa
Guccione, Lorri
Kao, Kalvin
Kebbel, Andrew
Knowlton, Jennifer
Labrecque, Matthew
McDade, Louise
Mealmaker, Craig
Minderman, Melissa
Nawrocki, Anne
Niazi, Faheem
Pareja, Kristen
Ramenani, Ravi
Riches, David
Song, Wanmin
Turcotte, Cynthia
Wang, Shally
Mardis, Elaine R.
Dooling, David
Fulton, Lucinda
Fulton, Robert
Weinstock, George
Durbin, Richard M.
Burton, John
Carter, David M.
Churcher, Carol
Coffey, Alison
Cox, Anthony
Palotie, Aarno
Quail, Michael
Skelly, Tom
Stalker, James
Swerdlow, Harold P.
Turner, Daniel
De Witte, Anniek
Giles, Shane
Gibbs, Richard A.
Wheeler, David
Bainbridge, Matthew
Challis, Danny
Sabo, Aniko
Yu, Fuli
Yu, Jin
Wang, Jun
Fang, Xiaodong
Guo, Xiaosen
Li, Ruiqiang
Li, Yingrui
Luo, Ruibang
Tai, Shuaishuai
Wu, Honglong
Zheng, Hancheng
Zheng, Xiaole
Zhou, Yan
Yang, Huanming
Marth, Gabor T.
Garrison, Erik P.
Huang, Weichun
Indap, Amit
Kural, Deniz
Lee, Wan-Ping
Leong, Wen Fung
Huang, Weichun
Indap, Amit
Kural, Deniz
Lee, Wan-Ping
Leong, Wen Fung
Quinlan, Aaron R.
Stewart, Chip
Stromberg, Michael P.
Ward, Alistair N.
Wu, Jiantao
Lee, Charles
Mills, Ryan E.
Shi, Xinghua
Daly, Mark J.
DePristo, Mark A.
Altshuler, David L.
Ball, Aaron D.
Banks, Eric
Bloom, Toby
Browning, Brian L.
Cibulskis, Kristian
Fennell, Tim J.
Garimella, Kiran V.
Grossman, Sharon R.
Handsaker, Robert E.
Hanna, Matt
Hartl, Chris
Jaffe, David B.
Kernytsky, Andrew M.
Korn, Joshua M.
Li, Heng
Maguire, Jared R.
McCarroll, Steven A.
McKenna, Aaron
Nemesh, James C.
Philippakis, Anthony A.
Poplin, Ryan E.
Price, Alkes
Rivas, Manuel A.
Sabeti, Pardis C.
Schaffner, Stephen F.
Shefler, Erica
Shlyakhter, Ilya A.
Cooper, David N.
Ball, Edward V.
Mort, Matthew
Phillips, Andrew D.
Stenson, Peter D.
Sebat, Jonathan
Makarov, Vladimir
Ye, Kenny
Yoon, Seungtai C.
Bustamante, Carlos D.
Clark, Andrew G.
Boyko, Adam
Degenhardt, Jeremiah
Gravel, Simon
Gutenkunst, Ryan N.
Kaganovich, Mark
Keinan, Alon
Lacroute, Phil
Ma, Xia
Reynolds, Andy
Clarke, Laura
Flicek, Paul
Cunningham, Fiona
Herrero, Javier
Keenen, Stephen
Kulesha, Eugene
Leinonen, Rasko
McLaren, WilliamM.
Radhakrishnan, Rajesh
Smith, Richard E.
Zalunin, Vadim
Zheng-Bradley, Xiangqun
Korbel, Jan O.
Stuetz, Adrian M.
Humphray, Sean
Bauer, Markus
Cheetham, R. Keira
Cox, Tony
Eberle, Michael
James, Terena
Kahn, Scott
Murray, Lisa
Ye, Kai
De La Vega, Francisco M.
Fu, Yutao
Hyland, Fiona C. L.
Manning, Jonathan M.
McLaughlin, Stephen F.
Peckham, Heather E.
Sakarya, Onur
Sun, Yongming A.
Tsung, Eric F.
Batzer, Mark A.
Konkel, Miriam K.
Walker, Jerilyn A.
Sudbrak, Ralf
Albrecht, Marcus W.
Amstislavskiy, Vyacheslav S.
Herwig, Ralf
Parkhomchuk, Dimitri V.
Sherry, Stephen T.
Agarwala, Richa
Khouri, Hodam.
Morgulis, Aleksandr O.
Paschall, Justin E.
Phan, Lon D.
Rotmistrovsky, Kirill E.
Sanders, Robert D.
Shumway, Martin F.
Xiao, Chunlin
McVean, Gil A.
Auton, Adam
Iqbal, Zamin
Lunter, Gerton
Marchini, Jonathan L.
Moutsianas, Loukas
Myers, Simon
Tumian, Afidalina
Desany, Brian
Knight, James
Winer, Roger
Craig, David W.
Beckstrom-Sternberg, Steve M.
Christoforides, Alexis
Kurdoglu, Ahmet A.
Pearson, Johnv.
Sinari, Shripad A.
Tembe, Waibhav D.
Haussler, David
Hinrichs, Angie S.
Katzman, Sol J.
Kern, Andrew
Kuhn, Robert M.
Przeworski, Molly
Hernandez, Ryan D.
Howie, Bryan
Kelley, Joanna L.
Melton, S. Cord
Abecasis, Goncalo R.
Li, Yun
Anderson, Paul
Blackwell, Tom
Chen, Wei
Cookson, William O.
Ding, Jun
Kang, Hyun Min
Lathrop, Mark
Liang, Liming
Moffatt, Miriam F.
Scheet, Paul
Sidore, Carlo
Snyder, Matthew
Zhan, Xiaowei
Zoellner, Sebastian
Awadalla, Philip
Casals, Ferran
Idaghdour, Youssef
Keebler, John
Stone, Eric A.
Zilversmit, Martine
Jorde, Lynn
Xing, Jinchuan
Eichler, Evan E.
Aksay, Gozde
Alkan, Can
Hajirasouliha, Iman
Hormozdiari, Fereydoun
Kidd, Jeffrey M.
Sahinalp, S. Cenk
Sudmant, Peter H.
Mardis, Elaine R.
Chen, Ken
Chinwalla, Asif
Ding, Li
Koboldt, Daniel C.
McLellan, Mike D.
Dooling, David
Weinstock, George
Wallis, John W.
Wendl, Michael C.
Zhang, Qunyuan
Durbin, Richard M.
Albers, Cornelis A.
Ayub, Qasim
Balasubramaniam, Senduran
Barrett, Jeffrey C.
Carter, David M.
Chen, Yuan
Conrad, Donald F.
Danecek, Petr
Dermitzakis, Emmanouil T.
Hu, Min
Huang, Ni
Hurles, Matt E.
Jin, Hanjun
Jostins, Luke
Keane, Thomas M.
Keane, Thomas M.
Le, Si Quang
Lindsay, Sarah
Long, Quan
MacArthur, Daniel G.
Montgomery, Stephen B.
Parts, Leopold
Stalker, James
Tyler-Smith, Chris
Walter, Klaudia
Zhang, Yujun
Gerstein, Mark B.
Snyder, Michael
Abyzov, Alexej
Abyzov, Alexej
Balasubramanian, Suganthi
Bjornson, Robert
Du, Jiang
Grubert, Fabian
Habegger, Lukas
Haraksingh, Rajini
Jee, Justin
Khurana, Ekta
Lam, Hugo Y. K.
Leng, Jing
Mu, Xinmeng Jasmine
Urban, Alexander E.
Zhang, Zhengdong
Li, Yingrui
Luo, Ruibang
Marth, Gabor T.
Garrison, Erik P.
Kural, Deniz
Quinlan, Aaron R.
Stewart, Chip
Stromberg, Michael P.
Ward, Alistair N.
Wu, Jiantao
Lee, Charles
Mills, Ryan E.
Shi, Xinghua
McCarroll, Steven A.
Banks, Eric
DePristo, Mark A.
Handsaker, Robert E.
Hartl, Chris
Korn, Joshua M.
Li, Heng
Nemesh, James C.
Sebat, Jonathan
Makarov, Vladimir
Ye, Kenny
Yoon, Seungtai C.
Degenhardt, Jeremiah
Kaganovich, Mark
Clarke, Laura
Smith, Richard E.
Zheng-Bradley, Xiangqun
Korbel, Jan O.
Humphray, Sean
Cheetham, R. Keira
Eberle, Michael
Kahn, Scott
Murray, Lisa
Ye, Kai
De la Vega, Francisco M.
Fu, Yutao
Peckham, Heather E.
Sun, Yongming A.
Batzer, Mark A.
Konkel, Miriam K.
Xiao, Chunlin
Iqbal, Zamin
Desany, Brian
Blackwell, Tom
Snyder, Matthew
Xing, Jinchuan
Eichler, Evan E.
Aksay, Gozde
Alkan, Can
Hajirasouliha, Iman
Hormozdiari, Fereydoun
Kidd, Jeffrey M.
Chen, Ken
Chinwalla, Asif
Ding, Li
McLellan, Mike D.
Wallis, John W.
Hurles, Matt E.
Conrad, Donald F.
Walter, Klaudia
Zhang, Yujun
Gerstein, Mark B.
Snyder, Michael
Abyzov, Alexej
Du, Jiang
Grubert, Fabian
Haraksingh, Rajini
Jee, Justin
Khurana, Ekta
Lam, Hugo Y. K.
Leng, Jing
Mu, Xinmeng Jasmine
Urban, Alexander E.
Zhang, Zhengdong
Gibbs, Richard A.
Bainbridge, Matthew
Challis, Danny
Coafra, Cristian
Dinh, Huyen
Kovar, Christie
Lee, Sandy
Muzny, Donna
Nazareth, Lynne
Reid, Jeff
Sabo, Aniko
Yu, Fuli
Yu, Jin
Marth, Gabor T.
Garrison, Erik P.
Indap, Amit
Leong, Wen Fung
Quinlan, Aaron R.
Stewart, Chip
Ward, Alistair N.
Wu, Jiantao
Cibulskis, Kristian
Fennell, Tim J.
Gabriel, Stacey B.
Garimella, Kiran V.
Hartl, Chris
Shefler, Erica
Sougnez, Carrie L.
Wilkinson, Jane
Clark, Andrew G.
Gravel, Simon
Grubert, Fabian
Clarke, Laura
Flicek, Paul
Smith, Richard E.
Zheng-Bradley, Xiangqun
Sherry, Stephen T.
Khouri, Hoda M.
Paschall, Justin E.
Shumway, Martin F.
Xiao, Chunlin
McVean, Gil A.
Katzman, Sol J.
Abecasis, Goncalo R.
Blackwell, Tom
Mardis, Elaine R.
Dooling, David
Fulton, Lucinda
Fulton, Robert
Koboldt, Daniel C.
Durbin, Richard M.
Balasubramaniam, Senduran
Coffey, Allison
Keane, Thomas M.
MacArthur, Daniel G.
Palotie, Aarno
Scott, Carol
Stalker, James
Tyler-Smith, Chris
Gerstein, Mark B.
Balasubramanian, Suganthi
Chakravarti, Aravinda
Knoppers, Bartha M.
Peltonen, Leena
Abecasis, Goncalo R.
Bustamante, Carlos D.
Gharani, Neda
Gibbs, Richard A.
Jorde, Lynn
Kaye, Jane S.
Kent, Alastair
Li, Taosha
McGuire, Amy L.
McVean, Gil A.
Ossorio, Pilar N.
Rotimi, Charles N.
Su, Yeyang
Toji, Lorraine H.
Tyler-Smith, Chris
Brooks, Lisa D.
Felsenfeld, Adam L.
McEwen, Jean E.
Abdallah, Assya
Juenger, Christopher R.
Clemm, Nicholas C.
Collins, Francis S.
Duncanson, Audrey
Green, Eric D.
Guyer, Mark S.
Peterson, Jane L.
Schafer, Alan J.
Abecasis, Goncalo R.
Altshuler, David L.
Auton, Adam
Brooks, Lisa D.
Durbin, Richard M.
Gibbs, Richard A.
Hurles, Matt E.
McVean, Gil A.
Title A map of human genome variation from population-scale sequencing
Journal name Nature   Check publisher's open access policy
ISSN 0028-0836
Publication date 2010-10-28
Sub-type Article (original research)
DOI 10.1038/nature09534
Open Access Status Not yet assessed
Volume 467
Issue 7319
Start page 1061
End page 1073
Total pages 13
Publisher Nature Publishing Group
Language eng
Subject 1000 General
Abstract The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype. Here we present results of the pilot phase of the project, designed to develop and compare different strategies for genome-wide sequencing with high-throughput platforms. We undertook three projects: low-coverage whole-genome sequencing of 179 individuals from four populations; high-coverage sequencing of two mother-father-child trios; and exon-targeted sequencing of 697 individuals from seven populations. We describe the location, allele frequency and local haplotype structure of approximately 15 million single nucleotide polymorphisms, 1 million short insertions and deletions, and 20,000 structural variants, most of which were previously undescribed. We show that, because we have catalogued the vast majority of common variation, over 95% of the currently accessible variants found in any individual are present in this data set. On average, each person is found to carry approximately 250 to 300 loss-of-function variants in annotated genes and 50 to 100 variants previously implicated in inherited disorders. We demonstrate how these results can be used to inform association and functional studies. From the two trios, we directly estimate the rate of de novo germline base substitution mutations to be approximately 10 g-8 per base pair per generation. We explore the data with regard to signatures of natural selection, and identify a marked reduction of genetic variation in the neighbourhood of genes, due to selection at linked sites. These methods and public data will support the next phase of human genetic research. © 2010 Macmillan Publishers Limited. All rights reserved.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collections: ResearcherID Downloads - Archived
Scopus Import - Archived
 
Versions
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 3610 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 4424 times in Scopus Article | Citations
Google Scholar Search Google Scholar
Created: Tue, 01 Sep 2015, 22:38:55 EST by System User on behalf of Scholarly Communication and Digitisation Service