Li, Xingnan
Mayo Clinic
Division of Data Driven and Digital Medicine, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Citations 2
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. Y. , Manichaikul, Ani , Paik, David T. , Saferali, Aabida , Smith, Joshua D. , Taylor, Kent D. , Wang, Jiongming , Weinstock, Joshua S. , Weiss, Jeffrey, Wheeler, Heather E. , Zhou, Ying , Zoellner, Sebastian, Mestroni, Luisa , Graw, Sharon , Taylor, Matthew R.G. , Ortega, Victor E. , Johnson, Craig , Gan, Weiniu , Abecasis, Gonçalo , Nickerson, Deborah A. , Ardlie, Kristin G., Woodruff, Prescott G. , Bowler, Russell P. , Meyers, Deborah A. , Reiner, Alex, Kooperberg, Charles , Ziv, Elad , Vasan, Ramachandran S. , Silverman, Edwin K. , Rich, Stephen S., Heard‐Costa, Nancy L. , Tang, Hua, Rotter, Jerome I. , Smith, Albert V. , Aguet, François, Scott, Laura J. , Raffield, Laura M. , Parker, Stephen C.J. , 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, 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.
The genetic determinants of recurrent somatic mutations in 43,693 blood genomes
Weinstock, Joshua S. , Laurie, Cecelia , Broome, Jai , Taylor, Kent D. , Guo, Xiuqing , Shuldiner, Alan R. , O’Connell, Jeffrey R. , Lewis, Joshua P. , Boerwinkle, Eric , Barnes, Kathleen C. , Chami, Nathalie , Loos, Ruth J. F. , Fornage, Myriam , Redline, Susan , Cade, Brian E. , Chen, Zhanghua , Gauderman, W. James , Schleimer, Robert P. , Bis, Joshua C. , Brody, Jennifer A. , Silverman, Edwin K. , Qiao, Dandi , Lasky‐Su, Jessica , DeMeo, Dawn L. , Palmer, Nicholette D. , Bowden, Donald W. , Johnson, Andrew D. , Yanek, Lisa R. , Becker, Lewis C. , Kardia, Sharon L.R., Kaplan, Robert C. , Heckbert, Susan R. , Smith, Nicholas L. , Arnett, Donna K. , Irvin, Marguerite R. , Tiwari, Hemant K., Raffield, Laura M. , Gao, Yan , Rotter, Jerome I. , Wheeler, Marsha M. , Duggirala, Ravindranath , Xiao, Shujie, Williams, L. Keoki , Meyers, Deborah A. , Ortega, Victor E. , McGarvey, Stephen T. , Chen, Yii‐Der Ida , Lee, Wen‐Jane , Shoemaker, M. Benjamin , Roden, Dan M. , Blackwell, Thomas W. , Smith, Albert V. , Kang, Hyun Min , Mathias, Rasika A. , Natarajan, Pradeep , Jaiswal, Siddhartha , Reiner, Alex P. , Bick, Alexander G. , Kaplan, Robert C. , Broome, Jai , Kenny, Eimear E , Loos, Ruth J F , Fornage, Myriam , Redline, Susan , Cade, Brian E , Gauderman, W James , Grammer, Leslie , Schleimer, Robert P , Bis, Joshua C , Brody, Jennifer A , Silverman, Edwin K , Yun, Jeong H , Qiao, Dandi , Weiss, Scott T , Palmer, Nicholette D , Freedman, Barry I , Cho, Michael H , Vasan, Ramachandran S , Johnson, Andrew D , Yanek, Lisa R , Becker, Lewis C , He, Jiang , Heckbert, Susan R , Wiggins, Kerri L , Arnett, Donna K , Correa, Adolfo , Raffield, Laura M , Gao, Yan , Rotter, Jerome I , Rich, Stephen S , Manichaikul, Ani W , Konkle, Barbara A , Johnsen, Jill M , Custer, Brian S , Duggirala, Ravindranath , Curran, Joanne E , Li, Xingnan , McGarvey, Stephen T , Gu, C Charles , Lee, Wen-Jane , Darbar, Dawood , Roden, Dan M. , Kooperberg, Charles , Desai, Pinkal M , Smith, Albert V , Kang, Hyun M , Mathias, Rasika A , Natarajan, Pradeep , Jaiswal, Siddhartha , Bick, Alexander G , Weinstock, Joshua S , Shuldiner, Alan R , Taylor, Kent D , Guo, Xiuqing , Lasky-Su, Jessica , Gilliland, Frank D. , Kumar, Rajesh , Psaty, Bruce M. , Yun, Jeong H. , Weiss, Scott T. , Freedman, Barry I. , Cho, Michael H. , Vasan, Ramachandran S. , He, Jiang , Wiggins, Kerri L. , Andrade, Mariza de , Rich, Stephen S. , Manichaikul, Ani , Konkle, Barbara A. , Custer, Brian , Curran, Joanne E. , Blangero, John , Gui, Hongsheng , Li, Xingnan , Darbar, Dawood , Albert, Christine M. , Kooperberg, Charles , Desai, Pinkal , Abecasis, Gonçalo R.
Science Advances | April 26, 2023 | Volume: 9 | Issue: 17 | Pages: No page available
Nononcogenic somatic mutations are thought to be uncommon and inconsequential. To test this, we analyzed 43,693 National Heart, Lung and Blood Institute Trans-Omics for Precision Medicine blood whole genomes from 37 cohorts and identified 7131 non-missense somatic mutations that are recurrently mutated in at least 50 individuals. These recurrent non-missense somatic mutations (RNMSMs) are not clearly explained by other clonal phenomena such as clonal hematopoiesis. RNMSM prevalence increased with age, with an average 50-year-old having 27 RNMSMs. Inherited germline variation associated with RNMSM acquisition. These variants were found in genes involved in adaptive immune function, proinflammatory cytokine production, and lymphoid lineage commitment. In addition, the presence of eight specific RNMSMs associated with blood cell traits at effect sizes comparable to Mendelian genetic mutations. Overall, we found that somatic mutations in blood are an unexpectedly common phenomenon with ancestry-specific determinants and human health consequences.