Attenzione: i dati modificati non sono ancora stati salvati. Per confermare inserimenti o cancellazioni di voci è necessario confermare con il tasto SALVA/INSERISCI in fondo alla pagina
CNR Institutional Research Information System
By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here we describe the genomes of 1,092 individuals from 14 populations, constructed using a combination of low-coverage whole-genome and exome sequencing. By developing methods to integrate information across several algorithms and diverse data sources, we provide a validated haplotype map of 38 million single nucleotide polymorphisms, 1.4 million short insertions and deletions, and more than 14,000 larger deletions. We show that individuals from different populations carry different profiles of rare and common variants, and that low-frequency variants show substantial geographic differentiation, which is further increased by the action of purifying selection. We show that evolutionary conservation and coding consequence are key determinants of the strength of purifying selection, that rare-variant load varies substantially across biological pathways, and that each individual contains hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites. This resource, which captures up to 98% of accessible single nucleotide polymorphisms at a frequency of 1% in related populations, enables analysis of common and low-frequency variants in individuals from diverse, including admixed, populations.
An integrated map of genetic variation from 1,092 human genomes
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;Wang Bo;Wang Guangbiao;Wu Honglong;Wu Renhua;Yin Ye;Zhang Wenwei;Zhao Jiao;Zhao Meiru;Zheng Xiaole;Zhou Yan;Lander Eric S;Altshuler David M;Gabriel Stacey B;Gupta Namrata;Flicek Paul;Clarke Laura;Leinonen Rasko;Smith Richard E;ZhengBradley Xiangqun;Bentley David R;Grocock Russell;Humphray Sean;James Terena;Kingsbury Zoya;Lehrach Hans;Sudbrak Ralf;Albrecht Marcus W;Amstislavskiy Vyacheslav S;Borodina Tatiana A;Lienhard Matthias;Mertes Florian;Sultan Marc;Timmermann Bernd;Yaspo MarieLaure;Sherry Stephen T;McVean Gil A;Mardis Elaine R;Wilson Richard K;Fulton Lucinda;Fulton Robert;Weinstock George M;Durbin Richard M;Balasubramaniam Senduran;Burton John;Danecek Petr;Keane Thomas M;KolbKokocinski Anja;McCarthy Shane;Stalker James;Quail Michael;Schmidt Jeanette P;Davies Christopher J;Gollub Jeremy;Webster Teresa;Wong Brant;Zhan Yiping;Auton Adam;Gibbs Richard A;Yu Fuli;Bainbridge Matthew;Challis Danny;Evani Uday S;Lu James;Muzny Donna;Nagaswamy Uma;Reid Jeff;Sabo Aniko;Wang Yi;Yu Jin;Wang Jun;Coin Lachlan J M;Fang Lin;Guo Xiaosen;Jin Xin;Li Guoqing;Li Qibin;Li Yingrui;Li Zhenyu;Lin Haoxiang;Liu Binghang;Luo Ruibang;Qin Nan;Shao Haojing;Wang Bingqiang;Xie Yinlong;Ye Chen;Yu Chang;Zhang Fan;Zheng Hancheng;Zhu Hongmei;Marth Gabor T;Garrison Erik P;Kural Deniz;Lee WanPing;Leong Wen Fung;Ward Alistair N;Wu Jiantao;Zhang Mengyao;Lee Charles;Griffin Lauren;Hsieh ChihHeng;Mills Ryan E;Shi Xinghua;von Grotthuss Marcin;Zhang Chengsheng;Daly Mark J;DePristo Mark A;Altshuler David M;Banks Eric;Bhatia Gaurav;Carneiro Mauricio O;del Angel Guillermo;Gabriel Stacey B;Genovese Giulio;Gupta Namrata;Handsaker Robert E;Hartl Chris;Lander Eric S;McCarroll Steven A;Nemesh James C;Poplin Ryan E;Schaffner Stephen F;Shakir Khalid;Yoon Seungtai C;Lihm Jayon;Makarov Vladimir;Jin Hanjun;Kim Wook;Kim Ki Cheol;Korbel Jan O;Rausch Tobias;Flicek Paul;Beal Kathryn;Clarke Laura;Cunningham Fiona;Herrero Javier;McLaren William M;Ritchie Graham R S;Smith Richard E;ZhengBradley Xiangqun;Clark Andrew G;Gottipati Srikanth;Keinan Alon;RodriguezFlores Juan L;Sabeti Pardis C;Grossman Sharon R;Tabrizi Shervin;Tariyal Ridhi;Cooper David N;Ball Edward V;Stenson Peter D;Bentley David R;Barnes Bret;Bauer Markus;Cheetham R Keira;Cox Tony;Eberle Michael;Humphray Sean;Kahn Scott;Murray Lisa;Peden John;Shaw Richard;Ye Kai;Batzer Mark A;Konkel Miriam K;Walker Jerilyn A;MacArthur Daniel G;Lek Monkol;Sudbrak Ralf;Amstislavskiy Vyacheslav S;Herwig Ralf;Shriver Mark D;Bustamante Carlos D;Byrnes Jake K;De la Vega Francisco M;Gravel Simon;Kenny Eimear E;Kidd Jeffrey M;Lacroute Phil;Maples Brian K;MorenoEstrada Andres;Zakharia Fouad;Halperin Eran;Baran Yael;Craig David W;Christoforides Alexis;Homer Nils;Izatt Tyler;Kurdoglu Ahmet A;Sinari Shripad A;Squire Kevin;Sherry Stephen T;Xiao Chunlin;Sebat Jonathan;Bafna Vineet;Ye Kenny;Burchard Esteban G;Hernandez Ryan D;Gignoux Christopher R;Haussler David;Katzman Sol J;Kent W James;Howie Bryan;RuizLinares Andres;Dermitzakis Emmanouil T;Lappalainen Tuuli;Devine Scott E;Liu Xinyue;Maroo Ankit;Tallon Luke J;Rosenfeld Jeffrey A;Michelson Leslie P;Abecasis Goncalo R;Kang Hyun Min;Anderson Paul;Angius Andrea;Bigham Abigail;Blackwell Tom;Busonero Fabio;Cucca Francesco;Fuchsberger Christian;Jones Chris;Jun Goo;Li Yun;Lyons Robert;Maschio Andrea;Porcu Eleonora;Reinier Fred;Sanna Serena;Schlessinger David;Sidore Carlo;Tan Adrian;Trost Mary Kate;Awadalla Philip;Hodgkinson Alan;Lunter Gerton;McVean Gil A;Marchini Jonathan L;Myers Simon;Churchhouse Claire;Delaneau Olivier;GuptaHinch Anjali;Iqbal Zamin;Mathieson Iain;Rimmer Andy;Xifara Dionysia K;Oleksyk Taras K;Fu Yunxin;Liu Xiaoming;Xiong Momiao;Jorde Lynn;Witherspoon David;Xing Jinchuan;Eichler Evan E;Browning Brian L;Alkan Can;Hajirasouliha Iman;Hormozdiari Fereydoun;Ko Arthur;Sudmant Peter H;Mardis Elaine R;Chen Ken;Chinwalla Asif;Ding Li;Dooling David;Koboldt Daniel C;McLellan Michael D;Wallis John W;Wendl Michael C;Zhang Qunyuan;Durbin Richard M;Hurles Matthew E;TylerSmith Chris;Albers Cornelis A;Ayub Qasim;Balasubramaniam Senduran;Chen Yuan;Coffey Alison J;Colonna Vincenza;Danecek Petr;Huang Ni;Jostins Luke;Keane Thomas M;Li Heng;McCarthy Shane;Scally Aylwyn;Stalker James;Walter Klaudia;Xue Yali;Zhang Yujun;Gerstein Mark B;Abyzov Alexej;Balasubramanian Suganthi;Chen Jieming;Clarke Declan;Fu Yao;Habegger Lukas;Harmanci Arif O;Jin Mike;Khurana Ekta;Mu Xinmeng Jasmine;Sisu Cristina;Li Yingrui;Luo Ruibang;Zhu Hongmei;Lee Charles;Griffin Lauren;Hsieh ChihHeng;Mills Ryan E;Shi Xinghua;von Grotthuss Marcin;Zhang Chengsheng;Marth Gabor T;Garrison Erik P;Kural Deniz;Lee WanPing;Ward Alistair N;Wu Jiantao;Zhang Mengyao;McCarroll Steven A;Altshuler David M;Banks Eric;del Angel Guillermo;Genovese Giulio;Handsaker Robert E;Hartl Chris;Nemesh James C;Shakir Khalid;Yoon Seungtai C;Lihm Jayon;Makarov Vladimir;Degenhardt Jeremiah;Flicek Paul;Clarke Laura;Smith Richard E;ZhengBradley Xiangqun;Korbel Jan O;Rausch Tobias;Stuetz Adrian M;Bentley David R;Barnes Bret;Cheetham R Keira;Eberle Michael;Humphray Sean;Kahn Scott;Murray Lisa;Shaw Richard;Ye Kai;Batzer Mark A;Konkel Miriam K;Walker Jerilyn A;Lacroute Phil;Craig David W;Homer Nils;Church Deanna;Xiao Chunlin;Sebat Jonathan;Bafna Vineet;Michaelson Jacob J;Ye Kenny;Devine Scott E;Liu Xinyue;Maroo Ankit;Tallon Luke J;Lunter Gerton;McVean Gil A;Iqbal Zamin;Witherspoon David;Xing Jinchuan;Eichler Evan E;Alkan Can;Hajirasouliha Iman;Hormozdiari Fereydoun;Ko Arthur;Sudmant Peter H;Chen Ken;Chinwalla Asif;Ding Li;McLellan Michael D;Wallis John W;Hurles Matthew E;Ben Blackburne;Li Heng;Lindsay Sarah J;Ning Zemin;Scally Aylwyn;Walter Klaudia;Zhang Yujun;Gerstein Mark B;Abyzov Alexej;Chen Jieming;Clarke Declan;Khurana Ekta;Mu Xinmeng Jasmine;Sisu Cristina;Gibbs Richard A;Yu Fuli;Bainbridge Matthew;Challis Danny;Evani Uday S;Kovar Christie;Lewis Lora;Lu James;Muzny Donna;Nagaswamy Uma;Reid Jeff;Sabo Aniko;Yu Jin;Guo Xiaosen;Li Yingrui;Wu Renhua;Marth Gabor T;Garrison Erik P;Leong Wen Fung;Ward Alistair N;del Angel Guillermo;DePristo Mark A;Gabriel Stacey B;Gupta Namrata;Hartl Chris;Poplin Ryan E;Clark Andrew G;RodriguezFlores Juan L;Flicek Paul;Clarke Laura;Smith Richard E;ZhengBradley Xiangqun;MacArthur Daniel G;Bustamante Carlos D;Gravel Simon;Craig David W;Christoforides Alexis;Homer Nils;Izatt Tyler;Sherry Stephen T;Xiao Chunlin;Dermitzakis Emmanouil T;Abecasis Goncalo R;Kang Hyun Min;McVean Gil A;Mardis Elaine R;Dooling David;Fulton Lucinda;Fulton Robert;Koboldt Daniel C;Durbin Richard M;Balasubramaniam Senduran;Keane Thomas M;McCarthy Shane;Stalker James;Gerstein Mark B;Balasubramanian Suganthi;Habegger Lukas;Garrison Erik P;Gibbs Richard A;Bainbridge Matthew;Muzny Donna;Yu Fuli;Yu Jin;del Angel Guillermo;Handsaker Robert E;Makarov Vladimir;RodriguezFlores Juan L;Jin Hanjun;Kim Wook;Kim Ki Cheol;Flicek Paul;Beal Kathryn;Clarke Laura;Cunningham Fiona;Herrero Javier;McLaren William M;Ritchie Graham R S;ZhengBradley Xiangqun;Tabrizi Shervin;MacArthur Daniel G;Lek Monkol;Bustamante Carlos D;De la Vega Francisco M;Craig David W;Kurdoglu Ahmet A;Lappalainen Tuuli;Rosenfeld Jeffrey A;Michelson Leslie P;Awadalla Philip;Hodgkinson Alan;McVean Gil A;Chen Ken;TylerSmith Chris;Chen Yuan;Colonna Vincenza;Frankish Adam;Harrow Jennifer;Xue Yali;Gerstein Mark B;Abyzov Alexej;Balasubramanian Suganthi;Chen Jieming;Clarke Declan;Fu Yao;Harmanci Arif O;Jin Mike;Khurana Ekta;Mu Xinmeng Jasmine;Sisu Cristina;Gibbs Richard A;Fowler Gerald;Hale Walker;Kalra Divya;Kovar Christie;Muzny Donna;Reid Jeff;Wang Jun;Guo Xiaosen;Li Guoqing;Li Yingrui;Zheng Xiaole;Altshuler David M;Flicek Paul;Clarke Laura;Barker Jonathan;Kelman Gavin;Kulesha Eugene;Leinonen Rasko;McLaren William M;Radhakrishnan Rajesh;Roa Asier;Smirnov Dmitriy;Smith Richard E;Streeter Ian;Toneva Iliana;Vaughan Brendan;ZhengBradley Xiangqun;Bentley David R;Cox Tony;Humphray Sean;Kahn Scott;Sudbrak Ralf;Albrecht Marcus W;Lienhard Matthias;Craig David W;Izatt Tyler;Kurdoglu Ahmet A;Sherry Stephen T;Ananiev Victor;Belaia Zinaida;Beloslyudtsev Dimitriy;Bouk Nathan;Chen Chao;Church Deanna;Cohen Robert;Cook Charles;Garner John;Hefferon Timothy;Kimelman Mikhail;Liu Chunlei;Lopez John;Meric Peter;O'Sullivan Chris;Ostapchuk Yuri;Phan Lon;Ponomarov Sergiy;Schneider Valerie;Shekhtman Eugene;Sirotkin Karl;Slotta Douglas;Xiao Chunlin;Zhang Hua;Haussler David;Abecasis Goncalo R;McVean Gil A;Alkan Can;Ko Arthur;Dooling David;Durbin Richard M;Balasubramaniam Senduran;Keane Thomas M;McCarthy Shane;Stalker James;Chakravarti Aravinda;Knoppers Bartha M;Abecasis Goncalo R;Barnes Kathleen C;Beiswanger Christine;Burchard Esteban G;Bustamante Carlos D;Cai Hongyu;Cao Hongzhi;Durbin Richard M;Gharani Neda;Gibbs Richard A;Gignoux Christopher R;Gravel Simon;Henn Brenna;Jones Danielle;Jorde Lynn;Kaye Jane S;Keinan Alon;Kent Alastair;Kerasidou Angeliki;Li Yingrui;Mathias Rasika;McVean Gil A;MorenoEstrada Andres;Ossorio Pilar N;Parker Michael;Reich David;Rotimi Charles N;Royal Charmaine D;Sandoval Karla;Su Yeyang;Sudbrak Ralf;Tian Zhongming;Timmermann Bernd;Tishkoff Sarah;Toji Lorraine H;TylerSmith Chris;Via Marc;Wang Yuhong;Yang Huanming;Yang Ling;Zhu Jiayong;Bodmer Walter;Bedoya Gabriel;RuizLinares Andres;Ming Cai Zhi;Yang Gao;You Chu Jia;Peltonen Leena;GarciaMontero Andres;Orfao Alberto;Dutil Julie;MartinezCruzado Juan C;Oleksyk Taras K;Brooks Lisa D;Felsenfeld Adam L;McEwen Jean E;Clemm Nicholas C;Duncanson Audrey;Dunn Michael;Green Eric D;Guyer Mark S;Peterson Jane L;Abecasis Goncalo R;Auton Adam;Brooks Lisa D;DePristo Mark A;Durbin Richard M;Handsaker Robert E;Kang Hyun Min;Marth Gabor T;McVean Gil A
2012
Abstract
By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here we describe the genomes of 1,092 individuals from 14 populations, constructed using a combination of low-coverage whole-genome and exome sequencing. By developing methods to integrate information across several algorithms and diverse data sources, we provide a validated haplotype map of 38 million single nucleotide polymorphisms, 1.4 million short insertions and deletions, and more than 14,000 larger deletions. We show that individuals from different populations carry different profiles of rare and common variants, and that low-frequency variants show substantial geographic differentiation, which is further increased by the action of purifying selection. We show that evolutionary conservation and coding consequence are key determinants of the strength of purifying selection, that rare-variant load varies substantially across biological pathways, and that each individual contains hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites. This resource, which captures up to 98% of accessible single nucleotide polymorphisms at a frequency of 1% in related populations, enables analysis of common and low-frequency variants in individuals from diverse, including admixed, populations.
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.14243/314709
Citazioni
ND
ND
ND
social impact
Conferma cancellazione
Sei sicuro che questo prodotto debba essere cancellato?
simulazione ASN
Il report seguente simula gli indicatori relativi alla propria produzione scientifica in relazione alle soglie ASN 2023-2025 del proprio SC/SSD. Si ricorda che il superamento dei valori soglia (almeno 2 su 3) è requisito necessario ma non sufficiente al conseguimento dell'abilitazione. La simulazione si basa sui dati IRIS e sugli indicatori bibliometrici alla data indicata e non tiene conto di eventuali periodi di congedo obbligatorio, che in sede di domanda ASN danno diritto a incrementi percentuali dei valori. La simulazione può differire dall'esito di un’eventuale domanda ASN sia per errori di catalogazione e/o dati mancanti in IRIS, sia per la variabilità dei dati bibliometrici nel tempo. Si consideri che Anvur calcola i valori degli indicatori all'ultima data utile per la presentazione delle domande.
La presente simulazione è stata realizzata sulla base delle specifiche raccolte sul tavolo ER del Focus Group IRIS coordinato dall'Università di Modena e Reggio Emilia e delle regole riportate nel DM 589/2018 e allegata Tabella A. Cineca, l'Università di Modena e Reggio Emilia e il Focus Group IRIS non si assumono alcuna responsabilità in merito all’uso che il diretto interessato o terzi faranno della simulazione. Si specifica inoltre che la simulazione contiene calcoli effettuati con dati e algoritmi di pubblico dominio e deve quindi essere considerata come un mero ausilio al calcolo svolgibile manualmente o con strumenti equivalenti.