Comparative genomics as a tool to understand evolution and disease.
Comparative genomics as a tool to understand evolution and disease.
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DOI：
10.1101/gr.157503.113
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发表时间：
2013-07
期刊：
影响因子：
7
通讯作者：
Lindblad-Toh K
中科院分区：
文献类型：
--
作者：
Alföldi J;Lindblad-Toh K
当人类基因组计划开始时，主要的挑战是如何以一种有组织和经济有效的方式对30亿个字母的代码进行排序。该项目完成后，通过生成完整的人类基因组序列，为众多生物医学领域奠定了基础，但也推动了实验室和分析方法的发展，这些方法可以廉价地产生大量测序数据。这些技术的发展使得对更多脊椎动物基因组的测序成为可能，这对于解释人类基因组是必要的。它们还使脊椎动物基因组进化以及比较医学和人类医学的大规模研究成为可能。在这篇综述中，我们给出了使用各种时间框架进行进化分析的例子——从同一物种内的种群比较到相隔至少3亿年的物种比较。此外，我们预计与进化机制、适应和疾病相关的发现将在未来几年迅速加速。
When the human genome project started, the major challenge was how to sequence a 3 billion letter code in an organized and cost-effective manner. When completed, the project had laid the foundation for a huge variety of biomedical fields through the production of a complete human genome sequence, but also had driven the development of laboratory and analytical methods that could produce large amounts of sequencing data cheaply. These technological developments made possible the sequencing of many more vertebrate genomes, which have been necessary for the interpretation of the human genome. They have also enabled large-scale studies of vertebrate genome evolution, as well as comparative and human medicine. In this review, we give examples of evolutionary analysis using a wide variety of time frames—from the comparison of populations within a species to the comparison of species separated by at least 300 million years. Furthermore, we anticipate discoveries related to evolutionary mechanisms, adaptation, and disease to quickly accelerate in the coming years.
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影响因子：
64.8
作者：
Hughes, Jennifer F.;Skaletsky, Helen;Brown, Laura G.;Pyntikova, Tatyana;Graves, Tina;Fulton, Robert S.;Dugan, Shannon;Ding, Yan;Buhay, Christian J.;Kremitzki, Colin;Wang, Qiaoyan;Shen, Hua;Holder, Michael;Villasana, Donna;Nazareth, Lynne V.;Cree, Andrew;Courtney, Laura;Veizer, Joelle;Kotkiewicz, Holland;Cho, Ting-Jan;Koutseva, Natalia;Rozen, Steve;Muzny, Donna M.;Warren, Wesley C.;Gibbs, Richard A.;Wilson, Richard K.;Page, David C.
通讯作者：
Page, David C.
DOI：
10.1126/science.1224344
发表时间：
2012-10-12
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Meyer M;Kircher M;Gansauge MT;Li H;Racimo F;Mallick S;Schraiber JG;Jay F;Prüfer K;de Filippo C;Sudmant PH;Alkan C;Fu Q;Do R;Rohland N;Tandon A;Siebauer M;Green RE;Bryc K;Briggs AW;Stenzel U;Dabney J;Shendure J;Kitzman J;Hammer MF;Shunkov MV;Derevianko AP;Patterson N;Andrés AM;Eichler EE;Slatkin M;Reich D;Kelso J;Pääbo S
通讯作者：
Pääbo S
影响因子：
64.8
作者：
Jones, Felicity C.;Grabherr, Manfred G.;Chan, Yingguang Frank;Russell, Pamela;Mauceli, Evan;Johnson, Jeremy;Swofford, Ross;Pirun, Mono;Zody, Michael C.;White, Simon;Birney, Ewan;Searle, Stephen;Schmutz, Jeremy;Grimwood, Jane;Dickson, Mark C.;Myers, Richard M.;Miller, Craig T.;Summers, Brian R.;Knecht, Anne K.;Brady, Shannon D.;Zhang, Haili;Pollen, Alex A.;Howes, Timothy;Amemiya, Chris;Lander, Eric S.;Di Palma, Federica;Lindblad-Toh, Kerstin;Kingsley, David M.
通讯作者：
Kingsley, David M.
影响因子：
14.9
作者：
Flicek P;Ahmed I;Amode MR;Barrell D;Beal K;Brent S;Carvalho-Silva D;Clapham P;Coates G;Fairley S;Fitzgerald S;Gil L;García-Girón C;Gordon L;Hourlier T;Hunt S;Juettemann T;Kähäri AK;Keenan S;Komorowska M;Kulesha E;Longden I;Maurel T;McLaren WM;Muffato M;Nag R;Overduin B;Pignatelli M;Pritchard B;Pritchard E;Riat HS;Ritchie GR;Ruffier M;Schuster M;Sheppard D;Sobral D;Taylor K;Thormann A;Trevanion S;White S;Wilder SP;Aken BL;Birney E;Cunningham F;Dunham I;Harrow J;Herrero J;Hubbard TJ;Johnson N;Kinsella R;Parker A;Spudich G;Yates A;Zadissa A;Searle SM
通讯作者：
Searle SM
影响因子：
7
作者：
Margulies, Elliott H.;Cooper, Gregory M.;Sidow, Arend
通讯作者：
Sidow, Arend