Citations 1
Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed
Blackwell, Thomas W., Kachuri, Linda , Castaldi, Peter J. , Cho, Michael H. , Christenson, Stephanie A. , Durda, Peter , Gabriel, Stacey , Hersh, Craig P. , Huntsman, Scott , Hwang, S.-J., Joehanes, Roby, Johnson, Mari , Li, Xingnan , Lin, Honghuang , Liu, Ching‐Ti , Liu, Yongmei , Mak, Angel C. 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Graham, Barwick, Lucas, Beaty, Terri, Becker, Diane, Becker, Lewis, Beitelshees, Amber, Benos, Takis, Bezerra, Marcos, Bis, Joshua, Brody, Jennifer, Broeckel, Ulrich, Broome, Jai, Bunting, Karen, Buth, Erin, Carey, Vincent, Carty, Cara, Casaburi, Richard, Chaffin, Mark, Chang, Christy, Chang, Yi-Cheng, Chavan, Sameer, Chen, Bo-Juen, Chen, Wei-Min, Choi, Seung Hoan, Chuang, Lee-Ming, Chung, Ren-Hua, Conomos, Matthew, Cornell, Elaine, Crandall, Carolyn, Crapo, James, Curtis, Jeffrey, Damcott, Coleen, David, Sean, Fuentes, Lisa de las, Vries, Paul de, Deka, Ranjan, DeMeo, Dawn, Devine, Scott, Dinh, Huyen, Doddapaneni, Harsha, Duan, Qing, Duggirala, Ravi, Eaton, Charles, Ekunwe, Lynette, Boueiz, Adel El, Emery, Leslie, Farber, Charles, Farek, Jesse, Franceschini, Nora, Frazar, Chris, Fu, Mao, Fullerton, Stephanie M., Fulton, Lucinda, Gao, Shanshan, Gao, Yan, Gass, Margery, Geiger, Heather, Ghosh, Auyon, Gignoux, Chris, Glahn, David, Gogarten, Stephanie, Gong, Da-Wei, Goring, Harald, Grine, Daniel, Gu, C. Charles, Guan, Yue, Hall, Michael, Han, Yi, Harris, Daniel, Heavner, Ben, Herrington, David, Hobbs, Brian, Hong, Elliott, Hoth, Karin, Hsiung, Chao (Agnes), Hu, Jianhong, Hung, Yi-Jen, Huston, Haley, Hwu, Chii Min, Jackson, Rebecca, Jain, Deepti, Johnsen, Jill, Johnston, Rich, Jones, Kimberly, Kessler, Michael, Khan, Alyna, Khan, Ziad, Kim, Wonji, Kimoff, John, Kinney, Greg, Kramer, Holly, Lange, Christoph, Lange, Ethan, Laurie, Cathy, Laurie, Cecelia, LeBoff, Meryl, Lee, Sandra, Lee, Wen-Jane, Levine, David, Lewis, Joshua, Li, Yun, Lin, Xihong, Liu, Simin, Liu, Yu, Make, Barry, Manning, Alisa, Manson, JoAnn, Martin, Lisa, Marton, Melissa, Mathai, Susan, May, Susanne, McArdle, Patrick, McDonald, Merry-Lynn, McFarland, Sean, McGoldrick, Daniel, McHugh, Caitlin, Mei, Hao, Meigs, James, Menon, Vipin, Min, Nancy, Moll, Matt, Momin, Zeineen, Montasser, May, Mychaleckyj, Josyf C, Naik, Rakhi, Naseri, Take, Natarajan, Pradeep, Nelson, Sarah C., Neltner, Bonnie, Nessner, Caitlin, Nkechinyere, Osuji, O'Connell, Jeff, O’Connor, Tim, Ochs-Balcom, Heather, Okwuonu, Geoffrey, Pankow, James, Parker, Cora, Peloso, Gina, Peralta, Juan Manuel, Perez, Marco, Perry, James, Peters, Ulrike, Phillips, Lawrence S, Pollin, Toni, Becker, Julia Powers, Boorgula, Meher Preethi, Psaty, Bruce, Qiao, Dandi, Rafaels, Nicholas, Rajendran, Mahitha, Rasmussen-Torvik, Laura, Ratan, Aakrosh, Reed, Robert, Regan, Elizabeth, Reupena, Muagututi‘a Sefuiva, Robillard, Rebecca, Roselli, Carolina, Ruczinski, Ingo, Runnels, Alexi, Russell, Pamela, Ryan, Kathleen, Sabino, Ester Cerdeira, Salimi, Shabnam, Salvi, Sejal, Salzberg, Steven, Sandow, Kevin, Santibanez, Jireh, Schwander, Karen, Sciurba, Frank, Sériès, Frédéric, Shetty, Amol, Shetty, Aniket, Silver, Brian, Skomro, Robert, Smith, Tanja, Smoller, Sylvia, Snively, Beverly, Stilp, Adrienne M., Storm, Garrett, Streeten, Elizabeth, Su, Jessica Lasky, Sung, Yun Ju, Sylvia, Jody, Szpiro, Adam, Taub, Margaret, Taylor, Simeon, Thornton, Timothy A., Threlkeld, Machiko, Tinker, Lesley, Tirschwell, David, Tiwari, Hemant, Tong, Catherine, Tsai, Michael, Vaidya, Dhananjay, Walker, Tarik, Wallace, Robert, Walts, Avram, Wang, Fei Fei, Wang, Heming, Watson, Karol, Watt, Jennifer, Weng, Lu-Chen, Wessel, Jennifer, Williams, Kayleen, Wilson, Carla, Wilson, James, Winterkorn, Lara, Wong, Quenna, Wu, Baojun, Xu, Huichun, Yanek, Lisa, Yang, Ivana, Zekavat, Seyedeh Maryam, Zhao, Snow Xueyan, Zhao, Wei, Zhu, Xiaofeng, Rich, Stephen S. , Pankow, James S. , Reiner, Alex P. , Aguet, François , Johnson, W. Craig , Ardlie, Kristin , Orchard, Peter , Kachuri, Linda , Castaldi, Peter J , Cho, Michael H , Christenson, Stephanie A , Durda, Peter , Hersh, Craig P , Huntsman, Scott , Hwang, Seungyong , Joehanes, Roby , Johnson, Mari , Li, Xingnan , Lin, Honghuang , Liu, Ching-Ti , Liu, Yongmei , Mak, Angel C Y , Manichaikul, Ani W , Paik, David T , Smith, Joshua D , Taylor, Kent D , Tracy, Russell P , Wang, Jiongming , Wang, Mingqiang , Weinstock, Joshua S , Weiss, Jeffrey , Wheeler, Heather E , Zhou, Ying , Zöllner, Sebastian , Wu, Joseph C , Mestroni, Luisa , Graw, Sharon , Taylor, Matthew R G , Ortega, Victor E , Johnson, W Craig , Gan, Weiniu , Gupta, Namrata , Ardlie, Kristin , Woodruff, Prescott G , Bowler, Russell P , Reiner, Alexander P , Kooperberg, Charles , Ziv, Elad , Vasan, Ramachandran S , Silverman, Edwin K , Rich, Stephen S , Heard-Costa, Nancy , Tang, Hua , Rotter, Jerome I , Smith, Albert V , Levy, Daniel , Aguet, François , Scott, Laura J , Raffield, Laura M , Parker, Stephen C J , Pankow, James S , Tracy, Russell P. , Wu, Joseph C. , Larson, Martin G. , Cupples, L. Adrienne , Abe, Namiko, Almasy, Laura, Ament, Seth, Anugu, Pramod, Auer, Paul, Avramopoulos, Dimitrios, Balasubramanian, Adithya, Barr, R. Graham, Barwick, Lucas, Beaty, Terri, Becker, Diane, Becker, Lewis, Beitelshees, Amber, Benos, Takis, Bezerra, Marcos, Bis, Joshua, Brody, Jennifer, Broeckel, Ulrich, Broome, Jai, Bunting, Karen, Buth, Erin, Carey, Vincent, Carty, Cara, Casaburi, Richard, Chaffin, Mark, Chang, Christy, Chang, Yi-Cheng, Chavan, Sameer, Chen, Bo-Juen, Chen, Wei-Min, Choi, Seung Hoan , Chuang, Lee-Ming, Chung, Ren-Hua, Conomos, Matthew, Cornell, Elaine, Crandall, Carolyn, Crapo, James, Curtis, Jeffrey, Damcott, Coleen, David, Sean, Fuentes, Lisa de las, Vries, Paul de, Deka, Ranjan, DeMeo, Dawn, Devine, Scott, Dinh, Huyen, Doddapaneni, Harsha, Duan, Qing, Duggirala, Ravi, Eaton, Charles, Ekunwe, Lynette, Boueiz, Adel El, Emery, Leslie, Farber, Charles, Farek, Jesse, Franceschini, Nora, Frazar, Chris, Fu, Mao, Fullerton, Stephanie M., Fulton, Lucinda, Gao, Shanshan, Gao, Yan, Gass, Margery, Geiger, Heather, Ghosh, Auyon, Gignoux, Chris, Glahn, David, Gogarten, Stephanie, Gong, Da-Wei, Goring, Harald, Grine, Daniel, Gu, C. Charles, Guan, Yue, Hall, Michael, Han, Yi, Harris, Daniel, Heavner, Ben, Herrington, David, Hobbs, Brian, Hong, Elliott, Hoth, Karin, Hsiung, Chao (Agnes), Hu, Jianhong, Hung, Yi-Jen, Huston, Haley, Hwu, Chii Min, Jackson, Rebecca, Jain, Deepti, Johnsen, Jill, Johnston, Rich, Jones, Kimberly, Kessler, Michael, Khan, Alyna, Khan, Ziad, Kim, Wonji, Kimoff, John, Kinney, Greg, Kramer, Holly, Lange, Christoph, Lange, Ethan, Laurie, Cathy, Laurie, Cecelia, LeBoff, Meryl, Lee, Sandra, Lee, Wen-Jane, Levine, David, Lewis, Joshua, Li, Yun, Lin, Xihong, Liu, Simin, Liu, Yu, Make, Barry, Manning, Alisa, Manson, JoAnn, Martin, Lisa, Marton, Melissa, Mathai, Susan, May, Susanne, McArdle, Patrick, McDonald, Merry-Lynn, McFarland, Sean, McGoldrick, Daniel, McHugh, Caitlin, Mei, Hao, Meigs, James, Menon, Vipin, Min, Nancy, Moll, Matt, Momin, Zeineen, Montasser, May, Mychaleckyj, Josyf C, Naik, Rakhi, Naseri, Take, Natarajan, Pradeep, Nelson, Sarah C., Neltner, Bonnie, Nessner, Caitlin, Nkechinyere, Osuji, O'Connell, Jeff, O’Connor, Tim, Ochs-Balcom, Heather, Okwuonu, Geoffrey, Parker, Cora, Peloso, Gina, Peralta, Juan Manuel, Perez, Marco, Perry, James, Peters, Ulrike, Phillips, Lawrence S, Pollin, Toni, Becker, Julia Powers, Boorgula, Meher Preethi, Psaty, Bruce, Qiao, Dandi, Rafaels, Nicholas, Rajendran, Mahitha, Rasmussen-Torvik, Laura, Ratan, Aakrosh, Reed, Robert, Regan, Elizabeth, Reupena, Muagututi‘a Sefuiva, Robillard, Rebecca, Roselli, Carolina, Ruczinski, Ingo, Runnels, Alexi, Russell, Pamela, Ryan, Kathleen, Sabino, Ester Cerdeira, Salimi, Shabnam, Salvi, Sejal, Salzberg, Steven, Sandow, Kevin, Santibanez, Jireh, Schwander, Karen, Sciurba, Frank, Sériès, Frédéric , Shetty, Amol, Shetty, Aniket, Silver, Brian, Skomro, Robert, Smith, Tanja, Smoller, Sylvia, Snively, Beverly, Stilp, Adrienne M., Storm, Garrett, Streeten, Elizabeth, Su, Jessica Lasky, Sung, Yun Ju, Sylvia, Jody, Szpiro, Adam, Taub, Margaret, Taylor, Simeon, Thornton, Timothy A., Threlkeld, Machiko, Tinker, Lesley, Tirschwell, David, Tiwari, Hemant, Tong, Catherine, Tsai, Michael, Vaidya, Dhananjay, Walker, Tarik, Wallace, Robert, Walts, Avram, Wang, Fei Fei, Wang, Heming, Watson, Karol, Watt, Jennifer, Weng, Lu-Chen, Wessel, Jennifer, Williams, Kayleen, Wilson, Carla, Wilson, James, Winterkorn, Lara, Wong, Quenna, Wu, Baojun, Xu, Huichun, Yanek, Lisa, Yang, Ivana, Zekavat, Seyedeh Maryam, Zhao, Snow Xueyan, Zhao, Wei, Zhu, Xiaofeng
Science | July 16, 2026 | Volume: 393 | Issue: 6808 | Pages: No page available
Most genetic variants associated with complex traits are hypothesized to regulate gene expression. To understand the genetics underlying gene expression variability, we characterized 14,324 RNA-sequencing samples from the Trans-Omics for Precision Medicine program and performed expression and splicing quantitative trait locus (e/sQTL) analyses in six tissues and cell types, including whole blood ( n = 6454) and lung ( n = 1291). We detected tens of thousands of secondary cis-e/sQTLs, showing that secondary cis-e/sQTL discovery remains unsaturated. We fine-mapped UK Biobank–derived genome-wide association study (GWAS) signals from 164 traits and identified e/sQTL colocalizations for 10,611 GWAS signals, including 7096 that colocalize with secondary e/sQTLs. Our results suggest that even larger e/sQTL analyses will uncover additional secondary e/sQTLs, further benefiting GWAS interpretation.