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Institution Date Title Author
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.
國家衛生研究院 2022-10-27 A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies Li, Z;Li, X;Zhou, H;Gaynor, SM;Selvaraj, MS;Arapoglou, T;Quick, C;Liu, Y;Chen, H;Sun, R;Dey, R;Arnett, DK;Auer, PL;Bielak, LF;Bis, JC;Blackwell, TW;Blangero, J;Boerwinkle, E;Bowden, DW;Brody, JA;Cade, BE;Conomos, MP;Correa, A;Cupples, LA;Curran, JE;de Vries, PS;Duggirala, R;Franceschini, N;Freedman, BI;Göring, HHH;Guo, X;Kalyani, RR;Kooperberg, C;Kral, BG;Lange, LA;Lin, BM;Manichaikul, A;Manning, AK;Martin, LW;Mathias, RA;Meigs, JB;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;Smith, JA;Taylor, KD;Taub, MA;Vasan, RS;Weeks, DE;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;Arking, D;Ashley-Koch, A;Aslibekyan, S;Assimes, T;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;Blue, N;Bowler, R;Broeckel, U;Broome, J;Brown, D, .; et al.
國家衛生研究院 2022-10-11 Whole genome sequence analysis of blood lipid levels in >66,000 individuals Selvaraj, MS;Li, X;Li, Z;Pampana, A;Zhang, DY;Park, J;Aslibekyan, S;Bis, JC;Brody, JA;Cade, BE;Chuang, LM;Chung, RH;Curran, JE;de Las Fuentes, L;de Vries, PS;Duggirala, R;Freedman, BI;Graff, M;Guo, X;Heard-Costa, N;Hidalgo, B;Hwu, CM;Irvin, MR;Kelly, TN;Kral, BG;Lange, L;Li, X;Lisa, M;Lubitz, SA;Manichaikul, AW;Michael, P;Montasser, ME;Morrison, AC;Naseri, T;O'Connell, JR;Palmer, ND;Peyser, PA;Reupena, MS;Smith, JA;Sun, X;Taylor, KD;Tracy, RP;Tsai, MY;Wang, Z;Wang, Y;Bao, W;Wilkins, JT;Yanek, LR;Zhao, W;Arnett, DK;Blangero, J;Boerwinkle, E;Bowden, DW;Chen, YI;Correa, A;Cupples, LA;Dutcher, SK;Ellinor, PT;Fornage, M;Gabriel, S;Germer, S;Gibbs, R;He, J;Kaplan, RC;Kardia, SLR;Kim, R;Kooperberg, C;Loos, RJF;Viaud-Martinez, KA;Mathias, RA;McGarvey, ST;Mitchell, BD;Nickerson, D;North, KE;Psaty, BM;Redline, S;Reiner, AP;Vasan, RS;Rich, SS;Willer, C;Rotter, JI;Rader, DJ;Lin, X;Peloso, GM;Natarajan, P
國家衛生研究院 2021-06-15 Genome sequencing unveils a regulatory landscape of platelet reactivity Keramati, AR; Chen, MH; Rodriguez, BAT; Yanek, LR; Bhan, A; Gaynor, BJ; Ryan, K; Brody, JA; Zhong, X; Wei, Q; 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; Arnett, DK; 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; Bielak, L; Bis, J; Blackwell, T; Blangero, J; Boerwinkle, E; Bowden, DW; Bowler, R; Brody, J; Broeckel, U; Broome, J; Brown, D; Bunting, K; Burchard, E; Bustamante, C; Buth, E; Cade, B; Cardwell, J; Carey, V; Carrier, J; Carty, C; Casaburi, R; Romero, JPC; Casella, J; Castaldi, P; Chaffin, M; Chang, C; Chang, YC; Chasman, D; Chavan, S; Chen, BJ; Chen, WM; Chen, YDI; Cho, M; Choi, SH; Chuang, LM; Chung, M; Chung, RH; Clish, C; Comhair, S; Conomos, M; Cornell, E; Correa, A; Crandall, C; Crapo, J; Cupples, LA; Curran, J; Curtis, J; Custer, B; Damcott, C; Darbar, D; David, S; Davis, C; Daya, M; de Andrade, M; Fuentes, L; de Vries, P, .; et al.
國家衛生研究院 2021-06-09 Variant-specific inflation factors for assessing population stratification at the phenotypic variance level Sofer, T;Zheng, X;Laurie, CA;Gogarten, SM;Brody, JA;Conomos, MP;Bis, JC;Thornton, TA;Szpiro, A;O’Connell, JR;Lange, EM;Gao, Y;Cupples, LA;Psaty, BM;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;Arnett, DK;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;Bielak, L;Bis, J;Blackwell, T;Blangero, J;Boerwinkle, E;Bowden, DW;Bowler, R;Brody, J;Broeckel, U;Broome, J;Brown, D;Bunting, K;Burchard, E;Bustamante, C;Buth, E;Cade, B;Cardwell, J;Carey, V;Carrier, J;Carty, C;Casaburi, R;Romero, JPC;Casella, J;Castaldi, P;Chaffin, M;Chang, C;Chang, YC;Chasman, D;Chavan, S;Chen, BJ;Chen, WM;Chen, YDI;Cho, M;Choi, SH;Chuang, LM;Chung, M;Chung, RH;Clish, C;Comhair, S;Conomos, M;Cornell, E;Correa, A;Crandall, C;Crapo, J;Cupples, LA;Curran, J;Curtis, J;Custer, B;Damcott, C;Darbar, D;David, S;Davis, C;et al.
國家衛生研究院 2021-04-12 Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices Natarajan, P;Pampana, A;Graham, SE;Ruotsalainen, SE;Perry, JA;de Vries, PS;Broome, JG;Pirruccello, JP;Honigbere, MC;Aragam, K;Wolford, B;Brody, JA;Antonacci-Fulton, L;Arden, M;Aslibekyan, S;Assimes, TL;Ballantyne, CM;Bielak, LF;Bisl, JC;Cade, BE;Do, R;Doddapaneni, H;Emery, LS;Hung, YJ;Irvin, MR;Khan, AT;Lange, L;Lee, J;Lemaitre, RN;Martin, LW;Metcalf, G;Montasser, ME;Moon, JY;Muzny, D;Connell, JRO;Palmer, ND;Peralta, JM;Peyser, PA;Stilp, AM;Tsai, M;Wang, FF;Weeks, DE;Yanek, LR;Wilson, JG;Abecasis, G;Arnett, DK;Becker, LC;Blangercy, J;Boerwinkle, E;Bowden, DW;Chang, YC;Chen, YDI;Choi, WJ;Correa, A;Curran, JE;Daly, MJ;DutcherE, SK;Ellinor, PT;Fornage, M;Freedman, BI;Gabriel, S;Germer, S;Gibbs, RA;He, J;Hveem, K;Jarvik, GP;Kaplan, RC;Kardia, SLR;Kennyn, E;Kim, RW;Kooperberg, C;Laurie, CC;Lee, S;Lloyd-Jones, DM;Loos, RJF;Lubitz, SA;Mathias, RA;Martinez, KAV;McGarvey, ST;Mitche, BD;Nickerson, DA;North, KE;Palotie, A;Park, CJ;Psat, YBM;Rao, DC;Redline, S;Reiner, AP;Seo, D;Seo, JS;Smith, AV;Tracy, RP;Kathiresan, S;Cupples, LA;Rotten, JI;Morrison, AC;Rich, SS;Ripatti, S;Wilier, C;Peloso, GM, .;et al.
國家衛生研究院 2021-03-11 Inherited causes of clonal haematopoiesis in 97,691 whole genomes[Erratum:Nature. 2020 Oct;586(7831):763-768.] Bick, AG; Weinstock, JS; Nandakumar, SK; Fulco, CP; Bao, EL; Zekavat, SM; Szeto, MD; Liao, X; Leventhal, MJ; Nasser, J; Chang, K; Laurie, C; Burugula, BB; Gibson, CJ; Niroula, A; Lin, AE; Taub, MA; Aguet, F; Ardlie, K; Mitchell, BD; Barnes, KC; Moscati, A; Fornage, M; Redline, S; Psaty, BM; Silverman, EK; Weiss, ST; Palmer, ND; Vasan, RS; Burchard, EG; Kardia, SLR; He, J; Kaplan, RC; Smith, NL; Arnett, DK; Schwartz, DA; Correa, A; de Andrade, M; Guo, X; Konkle, BA; Custer, B; Peralta, JM; Gui, H; Meyers, DA; McGarvey, ST; Chen, IYD; Shoemaker, MB; Peyser, PA; Broome, JG; Gogarten, SM; Wang, FF; Wong, Q; Montasser, ME; Daya, M; Kenny, EE; North, KE; Launer, LJ; Cade, BE; Bis, JC; Cho, MH; Lasky-Su, J; Bowden, DW; Cupples, LA; Mak, ACY; Becker, LC; Smith, JA; Kelly, TN; Aslibekyan, S; Heckbert, SR; Tiwari, HK; Yang, IV; Heit, JA; Lubitz, SA; Johnsen, JM; Curran, JE; Wenzel, SE; Weeks, DE; Rao, DC; Darbar, D; Moon, JY; Tracy, RP; Buth, EJ; Rafaels, N; Loos, RJF; Durda, P; Liu, Y; Hou, L; Lee, J; Kachroo, P; Freedman, BI; Levy, D; Bielak, LF; Hixson, JE; Floyd, JS; Whitsel, EA; Ellinor, PT; Irvin, MR; Fingerlin, TE; Raffield, LM; Armasu, SM, .; et al.
國家衛生研究院 2020-12-18 Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease Nielsen, JB; Rom, O; Surakka, I; Graham, SE; Zhou, W; Roychowdhury, T; Fritsche, LG; Gagliano Taliun, SA; Sidore, C; Liu, Y; Gabrielsen, ME; Skogholt, AH; Wolford, B; Overton, W; Zhao, Y; Chen, J; Zhang, H; Hornsby, WE; Acheampong, A; Grooms, A; Schaefer, A; Zajac, GJM; Villacorta, L; Zhang, J; Brumpton, B; Løset, M; Rai, V; Lundegaard, PR; Olesen, MS; Taylor, KD; Palmer, ND; Chen, YD; Choi, SH; Lubitz, SA; Ellinor, PT; Barnes, KC; Daya, M; Rafaels, N; Weiss, ST; Lasky-Su, J; Tracy, RP; Vasan, RS; Cupples, LA; Mathias, RA; Yanek, LR; Becker, LC; Peyser, PA; Bielak, LF; Smith, JA; Aslibekyan, S; Hidalgo, BA; Arnett, DK; Irvin, MR; Wilson, JG; Musani, SK; Correa, A; Rich, SS; Guo, X; Rotter, JI; Konkle, BA; Johnsen, JM; Ashley-Koch, AE; Telen, MJ; Sheehan, VA; Blangero, J; Curran, JE; Peralta, JM; Montgomery, C; Sheu, WHH; Chung, RH; Schwander, K; Nouraie, SM; Gordeuk, VR; Zhang, Y; Kooperberg, C; Reiner, AP; Jackson, RD; Bleecker, ER; Meyers, DA; Li, X; Das, S; Yu, K; LeFaive, J; Smith, A; Blackwell, T; Taliun, D; Zollner, S; Forer, L; Schoenherr, S; Fuchsberger, C; Pandit, A; Zawistowski, M; Kheterpal, S; Brummett, CM; Natarajan, P; Schlessinger, D; Lee, S; Kang, HM; Cucca, F; Holmen, OL, .; et al.
國家衛生研究院 2020-10 Inherited causes of clonal haematopoiesis in 97,691 whole genomes Bick, AG;Weinstock, JS;Nandakumar, SK;Fulco, CP;Bao, EL;Zekavat, SM;Szeto, MD;Liao, XT;Leventhal, MJ;Nasser, J;Chang, K;Laurie, C;Burugula, BB;Gibson, CJ;Lin, AE;Taub, MA;Aguet, F;Ardlie, K;Mitchell, BD;Barnes, KC;Moscati, A;Fornage, M;Redline, S;Psaty, BM;Silverman, EK;Weiss, ST;Palmer, ND;Vasan, RS;Burchard, EG;Kardia, SLR;He, J;Kaplan, RC;Smith, NL;Arnett, DK;Schwartz, DA;Correa, A;de Andrade, M;Guo, XQ;Konkle, BA;Custer, B;Peralta, JM;Gui, HS;Meyers, DA;McGarvey, ST;Chen, IYD;Shoemaker, MB;Peyser, PA;Broome, JG;Gogarten, SM;Wang, FF;Wong, QN;Montasser, ME;Daya, M;Kenny, EE;North, KE;Launer, LJ;Cade, BE;Bis, JC;Cho, MH;Lasky-Su, J;Bowden, DW;Cupples, LA;Mak, ACY;Becker, LC;Smith, JA;Kelly, TN;Aslibekyan, S;Heckbert, SR;Tiwari, HK;Yang, IV;Heit, JA;Lubitz, SA;Johnsen, JM;Curran, JE;Wenzel, SE;Weeks, DE;Rao, DC;Darbar, D;Moon, JY;Tracy, RP;Buth, EJ;Rafaels, N;Loos, RJF;Durda, P;Liu, YM;Hou, LF;Lee, J;Kachroo, P;Freedman, BI;Levy, D;Bielak, LF;Hixson, JE;Floyd, JS;Whitsel, EA;Ellinor, PT;Irvin, MR;Fingerlin, TE;Raffield, LM;Armasu, SM;Wheeler, MM;et al.
國家衛生研究院 2020-09 Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale Li, XH;Li, ZL;Zhou, HF;Gaynor, SM;Liu, YW;Chen, H;Sun, R;Dey, R;Arnett, DK;Aslibekyan, S;Ballantyne, CM;Bielak, LF;Blangero, J;Boerwinkle, E;Bowden, DW;Broome, JG;Conomos, MP;Correa, A;Cupples, LA;Curran, JE;Freedman, BI;Guo, XQ;Hindy, G;Irvin, MR;Kardia, SLR;Kathiresan, S;Khan, AT;Kooperberg, CL;Laurie, CC;Liu, XS;Mahaney, MC;Manichaikul, AW;Martin, LW;Mathias, RA;McGarvey, ST;Mitchell, BD;Montasser, ME;Moore, JE;Morrison, AC;O'Connell, JR;Palmer, ND;Pampana, A;Peralta, JM;Peyser, PA;Psaty, BM;Redline, S;Rice, KM;Rich, SS;Smith, JA;Tiwari, HK;Tsai, MCY;Vasan, RS;Wang, FF;Weeks, DE;Weng, ZP;Wilson, JG;Yanek, LR;Abe, N;Abe, N;Abecasis, GR;Aguet, F;Albert, C;Almasy, L;Alonso, A;Ament, S;Anderson, P;Anugu, P;Applebaum-Bowden, D;Ardlie, K;Arking, D;Arnett, DK;Ashley-Koch, A;Aslibekyan, S;Assimes, T;Auer, P;Avramopoulos, D;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;Bielak, LF;Bis, J;Blackwell, T;Blangero, J;Boerwinkle, E;Bowden, DW;Bowler, R;Brody, J;Broeckel, U;Broome, JG, et al.

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