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Identification of constrained sequence elements across 239 primate genomes 期刊论文
NATURE, 2024, 卷号: 625, 期号: 7996
作者:  Kuderna, LFK;  Ulirsch, JC;  Rashid, S;  Ameen, M;  Sundaram, L;  Hickey, G;  Cox, AJ;  Gao, H;  Kumar, A;  Aguet, F;  Christmas, MJ;  Clawson, H;  Haeussler, M;  Janiak, MC;  Kuhlwilm, M;  Orkin, JD;  Bataillon, T;  Manu, S;  Valenzuela, A;  Bergman, J;  Rouselle, M;  Silva, FE;  Agueda, L;  Blanc, J;  Gut, M;  de Vries, D;  Goodhead, I;  Harris, RA;  Raveendran, M;  Jensen, A;  Chuma, IS;  Horvath, JE;  Hvilsom, C;  Juan, D;  Frandsen, P;  Schraiber, JG;  de Melo, FR;  Bertuol, F;  Byrne, H;  Sampaio, I;  Farias, I;  Valsecchi, J;  Messias, M;  da Silva, MNF;  Trivedi, M;  Rossi, R;  Hrbek, T;  Andriaholinirina, N;  Rabarivola, CJ;  Zaramody, A;  Jolly, CJ;  Phillips-Conroy, J;  Wilkerson, G;  Abee, C;  Simmons, JH;  Fernandez-Duque, E;  Kanthaswamy, S;  Shiferaw, F;  Wu, DD;  Zhou, L;  Shao, Y;  Zhang, GJ;  Keyyu, JD;  Knauf, S;  Le, MD;  Lizano, E;  Merker, S;  Navarro, A;  Nadler, T;  Khor, CC;  Lee, J;  Tan, P;  Lim, WK;  Kitchener, AC;  Zinner, D;  Gut, I;  Melin, AD;  Guschanski, K;  Schierup, MH;  Beck, RMD;  Karakikes, I;  Wang, KC;  Umapathy, G;  Roos, C;  Boubli, JP;  Siepel, A;  Kundaje, A;  Paten, B;  Lindblad-Toh, K;  Rogers, J;  Bonet, TM;  Farh, KKH
Adobe PDF(11749Kb)  |  收藏  |  浏览/下载：23/0  |  提交时间：2025/04/09
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease 期刊论文
AMERICAN JOURNAL OF HUMAN GENETICS, 2023, 卷号: 110, 期号: 8, 页码: 1394+
作者:  Calame, DG;  Guo, TY;  Wang, C;  Garrett, L;  Jolly, A;  Dawood, M;  Kurolap, A;  Henig, NZ;  Fatih, JM;  Herman, I;  Du, HW;  Mitani, T;  Becker, L;  Rathkolb, B;  Gerlini, R;  Seisenberger, C;  Marschall, S;  Hunter, J;  Gerard, A;  Heidlebaugh, A;  Challman, T;  Spillmann, RC;  Jhangiani, SN;  Coban-Akdemir, Z;  Lalani, S;  Liu, LX;  Revah-Politi, A;  Iglesias, A;  Guzman, E;  Baugh, E;  Boddaert, N;  Rondeau, S;  Ormieres, C;  Barcia, G;  Tan, QKG;  Thiffault, SI;  Pastinen, T;  Sheikh, K;  Biliciler, S;  Mei, D;  Melani, F;  Shashi, V;  Yaron, Y;  Steele, M;  Wakeling, E;  Ostergaard, E;  Millan, F;  Santiago-Sim, T;  Thevenon, J;  Bruel, AL;  Thauvin-Robinet, C;  Popp, D;  Platzer, K;  Gawlinski, P;  Wiszniewski, W;  Marafi, D;  Pehlivan, D;  Posey, JE;  Gibbs, RA;  Gailus-Durner, V;  Guerrini, R;  Fuchs, H;  de Angelis, MH;  Hölter, SM;  Cheung, HH;  Gu, S;  Lupski, JR
Adobe PDF(4359Kb)  |  收藏  |  浏览/下载：41/0  |  提交时间：2024/06/21
The landscape of tolerated genetic variation in humans and primates 期刊论文
SCIENCE, 2023, 卷号: 380, 期号: 6648, 页码: 929+
作者:  Gao, H;  Hamp, T;  Ede, J;  Schraiber, JG;  McRae, J;  Singer-Berk, M;  Yang, YS;  Dietrich, ASD;  Fiziev, PP;  Kuderna, LFK;  Sundaram, L;  Wu, YB;  Adhikari, A;  Field, Y;  Chen, C;  Batzoglou, S;  Aguet, F;  Lemire, G;  Reimers, R;  Balick, D;  Janiak, MC;  Kuhlwilm, M;  Orkin, JD;  Manu, S;  Valenzuela, A;  Bergman, J;  Rousselle, M;  Silva, FE;  Agueda, L;  Blanc, J;  Gut, M;  de Vries, D;  Goodhead, I;  Harris, RA;  Raveendran, M;  Jensen, A;  Chuma, IS;  Horvath, JE;  Hvilsom, C;  Juan, DV;  Frandsen, P;  de Melo, FR;  Bertuol, F;  Byrne, H;  Sampaio, I;  Farias, I;  do Amaral, JV;  Messias, M;  da Silva, MNF;  Trivedi, M;  Rossi, R;  Hrbek, T;  Andriaholinirina, N;  Rabarivola, CJ;  Zaramody, A;  Jolly, CJ;  Phillips-Conroy, J;  Wilkerson, G;  Abee, C;  Simmons, JH;  Fernandez-Duque, E;  Kanthaswamy, S;  Shiferaw, F;  Wu, DD;  Zhou, L;  Shao, Y;  Zhang, GJ;  Keyyu, JD;  Knauf, S;  Le, MD;  Lizano, E;  Merker, S;  Navarro, A;  Bataillon, T;  Nadler, T;  Khor, CC;  Lee, J;  Tan, P;  Lim, WK;  Kitchener, AC;  Zinner, D;  Gut, I;  Melin, A;  Guschanski, K;  Schierup, MH;  Beck, RMD;  Umapathy, G;  Roos, C;  Boubli, JP;  Lek, M;  Sunyaev, S;  O'Donnell-Luria, A;  Rehm, HL;  Xu, JB;  Rogers, J;  Marques-Bonet, T;  Farh, KKH
Adobe PDF(6295Kb)  |  收藏  |  浏览/下载：688/0  |  提交时间：2024/06/21
A global catalog of whole-genome diversity from 233 primate species 期刊论文
SCIENCE, 2023, 卷号: 380, 期号: 6648, 页码: 906-912
作者:  Kuderna, LFK;  Gao, H;  Janiak, MC;  Kuhlwilm, M;  Orkin, JD;  Bataillon, T;  Manu, S;  Valenzuela, A;  Bergman, J;  Rousselle, M;  Silva, FE;  Agueda, L;  Blanc, J;  Gut, M;  de Vries, D;  Goodhead, I;  Harris, RA;  Raveendran, M;  Jensen, A;  Chuma, IS;  Horvath, JE;  Hvilsom, C;  Juan, DV;  Frandsen, P;  Schraiber, JG;  de Melo, FR;  Bertuol, F;  Byrne, H;  Sampaio, I;  Farias, I;  Valsecchi, J;  Messias, M;  da Silva, MNF;  Trivedi, M;  Rossi, R;  Hrbek, T;  Andriaholinirina, N;  Rabarivola, CJ;  Zaramody, A;  Jolly, CJ;  Phillips-Conroy, J;  Wilkerson, G;  Abee, C;  Simmons, JH;  Fernandez-Duque, E;  Kanthaswamy, S;  Shiferaw, F;  Wu, DD;  Zhou, L;  Shao, Y;  Zhang, GJ;  Keyyu, JD;  Knauf, S;  Le, MD;  Lizano, E;  Merker, S;  Navarro, A;  Nadler, T;  Khor, CC;  Lee, J;  Tan, PT;  Lim, WK;  Kitchener, AC;  Zinner, D;  Gut, I;  Melin, AD;  Guschanski, K;  Schierup, MH;  Beck, RMD;  Umapathy, G;  Roos, C;  Boubli, JP;  Rogers, J;  Farh, KKH;  Bonet, TM
Adobe PDF(3340Kb)  |  收藏  |  浏览/下载：44/0  |  提交时间：2024/06/21
DNA Barcoding Silver Butter Catfish (Schilbe intermedius) Reveals Patterns of Mitochondrial Genetic Diversity Across African River Systems 期刊论文
SCIENTIFIC REPORTS, 2020, 卷号: 10, 期号: 1
作者:  Nneji, Lotanna M.;  Adeola, Adeniyi C.;  Mustapha, Moshood K.;  Oladipo, Segun O.;  Djagoun, Chabi A. M. S.;  Nneji, Ifeanyi C.;  Adedeji, Babatunde E.;  Olatunde, Omotoso;  Ayoola, Adeola O.;  Okeyoyin, Agboola O.;  Ikhimiukor, Odion O.;  Useni, Galadima F.;  Iyiola, Oluyinka A.;  Faturoti, Emmanuel O.;  Matouke, Moise M.;  Ndifor, Wanze K.;  Wang, Yun-yu;  Chen, Jing;  Wang, Wen-Zhi;  Kachi, Jolly B.;  Ugwumba, Obih A.;  Ugwumba, Adiaha A. A.;  Nwani, Christopher D.
Adobe PDF(2143Kb)  |  收藏  |  浏览/下载：3875/0  |  提交时间：2021/11/11