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机构 日期 题名 作者
國家衛生研究院 2025-09-09 Whole genome sequence analysis of low-density lipoprotein cholesterol across 246 K individuals Selvaraj, MS;Li, XH;Li, ZL;Van Buren, E;Haidermota, S;Postupaka, D;Hornsby, W;Bis, JC;Brody, JA;Cade, BE;Chung, RH;Curran, JE;Damrauer, SM;de las Fuentes, L;de Vries, PS;Duggirala, R;Freedman, BI;Graff, M;Guo, XQ;Hidalgo, BA;Hou, LF;Irvin, R;Judy, R;Kalyani, RR;Kelly, TN;Konigsberg, IR;Kral, BG;Kwee, LC;Levy, D;Li, CW;Manichaikul, AW;Martin, LW;Montasser, ME;Morrison, AC;Naseri, T;North, KE;O'Connell, JR;Palmer, ND;Peyser, PA;Reiner, AP;Shah, SH;Smit, RAJ;Smith, JA;Taylor, KD;Tiwari, H;Tsai, MY;Viali, S;Wang, Z;Wang, YX;Zhao, W;Arnett, DK;Blangero, J;Boerwinkle, E;Bowden, DW;Carlson, JC;Chen, YDI;Ellinor, PT;Fornage, M;He, J;Heard-Costa, N;Kaplan, RC;Kardia, SLR;Kooperberg, C;Kraus, WE;Lange, LA;Loos, RJF;Mitchell, BD;Psaty, BM;Rader, DJ;Redline, S;Rich, SS;Yanek, LR;Gibbs, R;Gabriel, S;Viaud-Martinez, KA;Dutcher, SK;Germer, S;Kim, R;Rotter, JI;Lin, XH;Peloso, GM;Natarajan, P; NT-OPMT Consortium
國家衛生研究院 2025-07-23 Multi-ancestry polygenic risk scores for the prediction of type 2 diabetes and complications in diverse ancestries Huerta-Chagoya, A; Kim, J; Mandla, R; Lu, Y; Suzuki, K; Petty, LE; Ng, HK; Choi, J; Lee, S; Rout, M; Lin, K; Adair, LS; Adeyemo, A; Ahsan, H; Akiyama, M; An, P; Anand, SS; Becker, DM; Bertoni, AG; Bian, Z; Bielak, LF; Blangero, J; Boehnke, M; Bottinger, EP; Bowden, DW; Bragg, F; Brody, JA; Buchanan, TA; Cade, BE; Chai, JF; Chambers, JC; Chandak, GR; Chang, LC; Chang, KM; Chee, ML; Chen, CH; Chen, YT; Chen, Z; Chen, YI; Chen, J; Chen, G; Chen, SH; Chen, WM; Cheng, CY; Cho, YS; Choi, HS; Chuang, LM; Cruz, M; Cushman, M; Das, SK; DeFronzo, RA; deSilva, HJ; Dimitrov, L; Doumatey, AP; Du, S; Duan, Q; Duggirala, R; Emery, LS; Engert, JC; Evans, DS; Evans, MK; Finer, S; Florez, JC; Floyd, JS; Fornage, M; Frankel, EG; Freedman, BI; García-García, L; Genter, P; Gerstein, HC; Goodarzi, MO; Gordon-Larsen, P; Graff, M; Gross, M; Guo, Y; Guo, X; Hai, Y; Hanis, CL; Hayes, M; Horikoshi, M; Howard, AG; Hsu, S; Hsueh, W; Huang, W; Huang, M; Hung, YJ; Hwang, MY; Hwu, CM; Ichihara, S; Igase, M; Ipp, E; Islam, MT; Isono, M; Jang, HM; Jasmine, F; Jonas, JB; Joo, YY; Kabagambe, E; Kadowaki, T; Kamatani, Y, .; et al.
國家衛生研究院 2025-04-11 Whole genome sequencing analysis of body mass index identifies novel African ancestry-specific risk allele Zhang, X; Brody, JA; Graff, M; Highland, HM; Chami, N; Xu, H; Wang, Z; Ferrier, KR; Chittoor, G; Josyula, NS; Meyer, M; Gupta, S; Li, X; Li, Z; Allison, MA; Becker, DM; Bielak, LF; Bis, JC; Boorgula, MP; Bowden, DW; Broome, JG; Buth, EJ; Carlson, CS; Chang, KM; Chavan, S; Chiu, YF; Chuang, LM; Conomos, MP; DeMeo, DL; Du, M; Duggirala, R; Eng, C; Fohner, AE; Freedman, BI; Garrett, ME; Guo, X; Haiman, C; Heavner, BD; Hidalgo, B; Hixson, JE; Ho, YL; Hobbs, BD; Hu, D; Hui, Q; Hwu, CM; Jackson, RD; Jain, D; Kalyani, RR; Kardia, SLR; Kelly, TN; Lange, EM; LeNoir, M; Li, C; Le Marchand, L; McDonald, MN; McHugh, CP; Morrison, AC; Naseri, T; O'Connell, J; O'Donnell, CJ; Palmer, ND; Pankow, JS; Perry, JA; Peters, U; Preuss, MH; Rao, DC; Regan, EA; Reupena, SM; Roden, DM; Rodriguez-Santana, J; Sitlani, CM; Smith, JA; Tiwari, HK; Vasan, RS; Wang, Z; Weeks, DE; Wessel, J; Wiggins, KL; Wilkens, LR; Wilson, PWF; Yanek, LR; Yoneda, ZT; Zhao, W; Zöllner, S; Arnett, DK; Ashley-Koch, AE; Barnes, KC; Blangero, J; Boerwinkle, E; Burchard, EG; Carson, AP; Chasman, DI; Ida Chen, YD; Curran, JE; Fornage, M; Gordeuk, VR; He, J; Heckbert, SR; Hou, L; Irvin, MR, .; et al.
國家衛生研究院 2025-02-07 A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies Li, XH;Chen, H;Selvaraj, MS;Van Buren, E;Zhou, HF;Wang, YX;Sun, R;McCaw, ZR;Yu, Z;Jiang, MZ;DiCorpo, D;Gaynor, SM;Dey, R;Arnett, DK;Benjamin, EJ;Bis, JC;Blangero, J;Boerwinkle, E;Bowden, DW;Brody, JA;Cade, BE;Carson, AP;Carlson, JC;Chami, N;Chen, YDI;Curran, JE;de Vries, PS;Fornage, M;Franceschini, N;Freedman, BI;Gu, C;Heard-Costa, NL;He, J;Hou, LF;Hung, YJ;Irvin, MR;Kaplan, RC;Kardia, SLR;Kelly, TN;Konigsberg, I;Kooperberg, C;Kral, BG;Li, CW;Li, Y;Lin, HH;Liu, CT;Loos, RJF;Mahaney, MC;Martin, LW;Mathias, RA;Mitchell, BD;Montasser, ME;Morrison, AC;Naseri, T;North, KE;Palmer, ND;Peyser, PA;Psaty, BM;Redline, S;Reiner, AP;Rich, SS;Sitlani, CM;Smith, JA;Taylor, KD;Tiwari, HK;Vasan, RS;Viali, S;Wang, Z;Wessel, J;Yanek, LR;Yu, B;Dupuis, J;Meigs, JB;Auer, PL;Raffield, LM;Manning, AK;Rice, KM;Rotter, JI;Peloso, GM;Natarajan, P;Li, ZL;Liu, ZH;Lin, XH;Abe, N;Abecasis, G;Aguet, F;Albert, C;Almasy, L;Alonso, A;Ament, S;Anderson, P;Anugu, P;Applebaum-Bowden, D;Ardlie, K;Arking, D;Ashley-Koch, A;Aslibekyan, S;Assimes, T;Avramopoulos, D;Ayas, N, .;al, et
國家衛生研究院 2024-10-09 Rare variant contribution to the heritability of coronary artery disease Rocheleau, G;Clarke, SL;Auguste, G;Hasbani, NR;Morrison, AC;Heath, AS;Bielak, LF;Iyer, KR;Young, EP;Stitziel, NO;Jun, G;Laurie, C;Broome, JG;Khan, AT;Arnett, DK;Becker, LC;Bis, JC;Boerwinkle, E;Bowden, DW;Carson, AP;Ellinor, PT;Fornage, M;Franceschini, N;Freedman, BI;Heard-Costa, NL;Hou, LF;Chen, YDI;Kenny, EE;Kooperberg, C;Kral, BG;Loos, RJF;Lutz, SM;Manson, JE;Martin, LW;Mitchell, BD;Nassir, R;Palmer, ND;Post, WS;Preuss, MH;Psaty, BM;Raffield, LM;Regan, EA;Rich, SS;Smith, JA;Taylor, KD;Yanek, LR;Young, KA;Anugu, P;Arnett, DK;Assimes, TL;Auer, P;Barwick, L;Becker, D;Becker, LC;Bielak, LF;Bis, JC;Boerwinkle, E;Bowden, DW;Broome, JG;Carson, AP;Carty, C;Castaldi, P;Chaffin, M;Chang, YC;Choi, SH;Chung, RH;Clarke, SL;Crandall, C;David, S;de las Fuentes, L;Deka, R;DeMeo, D;de Vries, PS;Do, R;Duan, Q;Eaton, C;Eaton, C;El Boueiz, A;Ellinor, PT;Fornage, M;Franceschini, N;Freedman, BI;Gao, SS;Gao, Y;Gass, M;Ghosh, A;Grine, D;Hall, M;Hasbani, NR;Heard-Costa, NL;Heath, AS;Hersh, C;Hobbs, B;Hou, LF;Hsiung, CA;Hung, YJ;Huston, H;Hwu, CM;Chen, YDI;Iyer, KR;Jackson, R;Johnsen, J;Jun, G;Kenny, EE;Khan, AT;Kooperberg, C;Kral, BG;Lange, C;Lange, E;Laurie, C;LeBoff, M;Lee, WJ;Li, Y;Liu, S;Liu, Y;Loos, RJF;Lutz, SM;Manson, JE;Martin, LW;Mathai, S;Mei, H;Miller, CL;Mitchell, BD;Morrison, AC;Naik, R;Naseri, T;Nassir, R;Neltner, B;Ochs-Balcom, H;Paik, DT;Palmer, ND;Parker, C;Perez, M;Peters, U;Peyser, PA;Phillips, LS;Post, WS;Becker, JP;Preuss, MH;Psaty, BM;Raffield, LM;Regan, EA;Reupena, MS;Rich, SS;Rocheleau, G;Roselli, C;Rotter, JI;Russell, P;Sabino, EC;Sandow, K;Schwander, K;Sciurba, F;Silver, B;Smith, JA;Smoller, S;Snively, B;Stitziel, NO;Storm, G;Sung, YJ;Tang, H;Taub, M;Taylor, KD;Tinker, L;Tirschwell, D;Tiwari, H;Vaidya, D;Vasan, RS;Walker, T;Wallace, R;Walts, A;Weng, LC;Yanek, LR;Yang, I;Young, EP;Young, KA;Zhao, SX;Hilliard, AT;Tcheandjieu, C;Peyser, PA;Vasan, RS;Rotte, JI;Miller, CL;Assimes, TL;de Vries, PS;Do, R
國家衛生研究院 2023-10-05 Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study Wang, Y;Selvaraj, MS;Li, X;Li, Z;Holdcraft, JA;Arnett, DK;Bis, JC;Blangero, J;Boerwinkle, E;Bowden, DW;Cade, BE;Carlson, JC;Carson, AP;Chen, YDI;Curran, JE;de Vries, PS;Dutcher, SK;Ellinor, PT;Floyd, JS;Fornage, M;Freedman, BI;Gabriel, S;Germer, S;Gibbs, RA;Guo, X;He, J;Heard-Costa, N;Hildalgo, B;Hou, L;Irvin, MR;Joehanes, R;Kaplan, RC;Kardia, SL;Kelly, TN;Kim, R;Kooperberg, C;Kral, BG;Levy, D;Li, C;Liu, C;Lloyd-Jone, D;Loos, RJ;Mahaney, MC;Martin, LW;Mathias, RA;Minster, RL;Mitchell, BD;Montasser, ME;Morrison, AC;Murabito, JM;Naseri, T;O'Connell, JR;Palmer, ND;Preuss, MH;Psaty, BM;Raffield, LM;Rao, DC;Redline, S;Reiner, AP;Rich, SS;Ruepena, MS;Sheu, WHH;Smith, JA;Smith, A;Tiwari, HK;Tsai, MY;Viaud-Martinez, KA;Wang, Z;Yanek, LR;Zhao, W;Rotter, JI;Lin, X;Natarajan, P;Peloso, GM
國家衛生研究院 2023-08-22 Whole genome sequencing analysis of body mass index identifies novel african ancestry-specific risk allele Zhang, X; Brody, JA; Graff, M; Highland, HM; Chami, N; Xu, H; Wang, Z; Ferrier, K; Chittoor, G; Josyula, NS; Li, X; Li, Z; Allison, MA; Becker, DM; Bielak, LF; Bis, JC; Boorgula, MP; Bowden, DW; Broome, JG; Buth, EJ; Carlson, CS; Chang, KM; Chavan, S; Chiu, YF; Chuang, LM; Conomos, MP; DeMeo, DL; Du, M; Duggirala, R; Eng, C; Fohner, AE; Freedman, BI; Garrett, ME; Guo, X; Haiman, C; Heavner, BD; Hidalgo, B; Hixson, JE; Ho, YL; Hobbs, BD; Hu, D; Hui, Q; Hwu, CM; Jackson, RD; Jain, D; Kalyani, RR; Kardia, SLR; Kelly, TN; Lange, EM; LeNoir, M; Li, C; Marchand, LL; McDonald, MN; McHugh, CP; Morrison, AC; Naseri, T; O'Connell, J; O'Donnell, CJ; Palmer, ND; Pankow, JS; Perry, JA; Peters, U; Preuss, MH; Rao, DC; Regan, EA; Reupena, SM; Roden, DM; Rodriguez-Santana, J; Sitlani, CM; Smith, JA; Tiwari, HK; Vasan, RS; Wang, Z; Weeks, DE; Wessel, J; Wiggins, KL; Wilkens, LR; Wilson, PWF; Yanek, LR; Yoneda, ZT; Zhao, W; Zöllner, S; Arnett, DK; Ashley-Koch, AE; Barnes, KC; Blangero, J; Boerwinkle, E; Burchard, EG; Carson, AP; Chasman, DI; Chen, YI; Curran, JE; Fornage, M; Gordeuk, VR; He, J; Heckbert, SR; Hou, L; Irvin, MR; Kooperberg, C; Minster, RL, .; et al.
國家衛生研究院 2023-06-29 Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed Whole Genome Sequencing Study Wang, Y;Selvaraj, MS;Li, X;Li, Z;Holdcraft, JA;Arnett, DK;Bis, JC;Blangero, J;Boerwinkle, E;Bowden, DW;Cade, BE;Carlson, JC;Carson, AP;Chen, YI;Curran, JE;de Vries, PS;Dutcher, SK;Ellinor, PT;Floyd, JS;Fornage, M;Freedman, BI;Gabriel, S;Germer, S;Gibbs, RA;Guo, X;He, J;Heard-Costa, N;Hildalgo, B;Hou, L;Irvin, MR;Joehanes, R;Kaplan, RC;Kardia, SL;Kelly, TN;Kim, R;Kooperberg, C;Kral, BG;Levy, D;Li, C;Liu, C;Lloyd-Jone, D;Loos, RJ;Mahaney, MC;Martin, LW;Mathias, RA;Minster, RL;Mitchell, BD;Montasser, ME;Morrison, AC;Murabito, JM;Naseri, T;O'Connell, JR;Palmer, ND;Preuss, MH;Psaty, BM;Raffield, LM;Rao, DC;Redline, S;Reiner, AP;Rich, SS;Ruepena, MS;Sheu, WH;Smith, JA;Smith, A;Tiwari, HK;Tsai, MY;Viaud-Martinez, KA;Wang, Z;Yanek, LR;Zhao, W;Rotter, JI;Lin, X;Natarajan, P;Peloso, GM
國家衛生研究院 2023-04-12 Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis Weinstock, JS;Gopakumar, J;Burugula, BB;Uddin, MM;Jahn, N;Belk, JA;Bouzid, H;Daniel, B;Miao, Z;Ly, N;Mack, TM;Luna, SE;Prothro, KP;Mitchell, SR;Laurie, CA;Broome, JG;Taylor, KD;Guo, XQ;Sinner, MF;von Falkenhausen, AS;Kaab, S;Shuldiner, AR;O'Connell, JR;Lewis, JP;Boerwinkle, E;Barnes, KC;Chami, N;Kenny, EE;Loos, RJF;Fornage, M;Hou, LF;Lloyd-Jones, DM;Redline, S;Cade, BE;Psaty, BM;Bis, JC;Brody, JA;Silverman, EK;Yun, JH;Qiao, DD;Palmer, ND;Freedman, BI;Bowden, DW;Cho, MH;DeMeo, DL;Vasan, RS;Yanek, LR;Becker, LC;Kardia, SLR;Peyser, PA;He, J;Rienstra, M;Van der Harst, P;Kaplan, R;Heckbert, SR;Smith, NL;Wiggins, KL;Arnett, DK;Irvin, MR;Tiwari, H;Cutler, MJ;Knight, S;Muhlestein, JB;Correa, A;Raffield, LM;Gao, Y;de Andrade, M;Rotter, JI;Rich, SS;Tracy, RP;Konkle, BA;Johnsen, JM;Wheeler, MM;Smith, JG;Melander, O;Nilsson, PM;Custer, BS;Duggirala, R;Curran, JE;Blangero, J;McGarvey, S;Williams, LK;Xiao, SJ;Yang, M;Gu, CC;Chen, YDI;Lee, WJ;Marcus, GM;Kane, JP;Pullinger, CR;Shoemaker, MB;Darbar, D;Roden, DM;Albert, C;Kooperberg, C;Zhou, Y;Manson, JE;Desai, P;Johnson, AD;Mathias, RA, .;et al.
國家衛生研究院 2022-12-23 Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies Li, X;Quick, C;Zhou, H;Gaynor, SM;Liu, Y;Chen, H;Selvaraj, MS;Sun, R;Dey, R;Arnett, DK;Bielak, LF;Bis, JC;Blangero, J;Boerwinkle, E;Bowden, DW;Brody, JA;Cade, BE;Correa, A;Cupples, LA;Curran, JE;de Vries, PS;Duggirala, R;Freedman, BI;Göring, HHH;Guo, X;Haessler, J;Kalyani, RR;Kooperberg, C;Kral, BG;Lange, LA;Manichaikul, A;Martin, LW;McGarvey, ST;Mitchell, BD;Montasser, ME;Morrison, AC;Naseri, T;O’Connell, JR;Palmer, ND;Peyser, PA;Psaty, BM;Raffield, LM;Redline, S;Reiner, AP;Reupena, MS;Rice, KM;Rich, SS;Sitlani, CM;Smith, JA;Taylor, KD;Vasan, RS;Willer, CJ;Wilson, JG;Yanek, LR;Zhao, W;Abe, N;Abecasis, G;Aguet, F;Albert, C;Almasy, L;Alonso, A;Ament, S;Anderson, P;Anugu, P;Applebaum-Bowden, D;Ardlie, K;Dan, A;Ashley-Koch, A;Aslibekyan, S;Assimes, T;Auer, P;Avramopoulos, D;Ayas, N;Balasubramanian, A;Barnard, J;Barnes, K;Barr, RG;Barron-Casella, E;Barwick, L;Beaty, T;Beck, G;Becker, D;Becker, L;Beer, R;Beitelshees, A;Benjamin, E;Benos, T;Bezerra, M;Blackwell, T;Blue, N;Bowler, R;Broeckel, U;Broome, J;Brown, D;Bunting, K;Burchard, E;Bustamante, C;Buth, E;Cardwell, J;Carey, V, .;et al.

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