Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed

BibTeX

@article{allodium:10.1126/science.adx2989,
  title = {Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed},
  author = {Peter Orchard and Thomas W. Blackwell and Linda Kachuri and Peter J. Castaldi and Michael H. Cho and Stephanie A. Christenson and Peter Durda and Stacey Gabriel and Craig P. Hersh and Scott Huntsman and Seungyong Hwang and Roby Joehanes and Mari Johnson and Xingnan Li and Honghuang Lin and Ching-Ti Liu and Yongmei Liu and Angel C. Y. Mak and Ani W. Manichaikul and David T. Paik and Aabida Saferali and Joshua D. Smith and Kent D. Taylor and Russell P. Tracy and Jiongming Wang and Mingqiang Wang and Joshua S. Weinstock and Jeffrey Weiss and Heather E. Wheeler and Ying Zhou and Sebastian Zöllner and Joseph C. Wu and Luisa Mestroni and Sharon Graw and Matthew R. G. Taylor and Victor E. Ortega and W. Craig Johnson and Weiniu Gan and Goncalo Abecasis and Deborah A. Nickerson and Namrata Gupta and Kristin Ardlie and Prescott G. Woodruff and Russell P. Bowler and Deborah A. Meyers and Alex Reiner and Charles Kooperberg and Elad Ziv and Ramachandran S. Vasan and Martin G. Larson and L. Adrienne Cupples and Edwin K. Silverman and Stephen S. Rich and Nancy Heard-Costa and Hua Tang and Jerome I. Rotter and Albert V. Smith and Daniel Levy and Unknown and Unknown and François Aguet and Laura J. Scott and Laura M. Raffield and Stephen C. J. Parker and Namiko Abe and Laura Almasy and Seth Ament and Pramod Anugu and Paul Auer and Dimitrios Avramopoulos and Adithya Balasubramanian and R. Graham Barr and Lucas Barwick and Terri Beaty and Diane Becker and Lewis Becker and Amber Beitelshees and Takis Benos and Marcos Bezerra and Joshua Bis and Jennifer Brody and Ulrich Broeckel and Jai Broome and Karen Bunting and Erin Buth and Vincent Carey and Cara Carty and Richard Casaburi and Mark Chaffin and Christy Chang and Yi-Cheng Chang and Sameer Chavan and Bo-Juen Chen and Wei-Min Chen and Seung Hoan Choi and Lee-Ming Chuang and Ren-Hua Chung and Matthew Conomos and Elaine Cornell and Carolyn Crandall and James Crapo and Jeffrey Curtis and Coleen Damcott and Sean David and Lisa de las Fuentes and Paul de Vries and Ranjan Deka and Dawn DeMeo and Scott Devine and Huyen Dinh and Harsha Doddapaneni and Qing Duan and Ravi Duggirala and Charles Eaton and Lynette Ekunwe and Adel El Boueiz and Leslie Emery and Charles Farber and Jesse Farek and Nora Franceschini and Chris Frazar and Mao Fu and Stephanie M. Fullerton and Lucinda Fulton and Shanshan Gao and Yan Gao and Margery Gass and Heather Geiger and Auyon Ghosh and Chris Gignoux and David Glahn and Stephanie Gogarten and Da-Wei Gong and Harald Goring and Daniel Grine and C. Charles Gu and Yue Guan and Michael Hall and Yi Han and Daniel Harris and Ben Heavner and David Herrington and Brian Hobbs and Elliott Hong and Karin Hoth and Chao (Agnes) Hsiung and Jianhong Hu and Yi-Jen Hung and Haley Huston and Chii Min Hwu and Rebecca Jackson and Deepti Jain and Jill Johnsen and Rich Johnston and Kimberly Jones and Michael Kessler and Alyna Khan and Ziad Khan and Wonji Kim and John Kimoff and Greg Kinney and Holly Kramer and Christoph Lange and Ethan Lange and Cathy Laurie and Cecelia Laurie and Meryl LeBoff and Sandra Lee and Wen-Jane Lee and David Levine and Joshua Lewis and Yun Li and Xihong Lin and Simin Liu and Yu Liu and Barry Make and Alisa Manning and JoAnn Manson and Lisa Martin and Melissa Marton and Susan Mathai and Susanne May and Patrick McArdle and Merry-Lynn McDonald and Sean McFarland and Daniel McGoldrick and Caitlin McHugh and Hao Mei and James Meigs and Vipin Menon and Nancy Min and Matt Moll and Zeineen Momin and May Montasser and Josyf C Mychaleckyj and Rakhi Naik and Take Naseri and Pradeep Natarajan and Sarah C. Nelson and Bonnie Neltner and Caitlin Nessner and Osuji Nkechinyere and Jeff O'Connell and Tim O’Connor and Heather Ochs-Balcom and Geoffrey Okwuonu and James Pankow and Cora Parker and Gina Peloso and Juan Manuel Peralta and Marco Perez and James Perry and Ulrike Peters and Lawrence S Phillips and Toni Pollin and Julia Powers Becker and Meher Preethi Boorgula and Bruce Psaty and Dandi Qiao and Nicholas Rafaels and Mahitha Rajendran and Laura Rasmussen-Torvik and Aakrosh Ratan and Robert Reed and Elizabeth Regan and Muagututi‘a Sefuiva Reupena and Rebecca Robillard and Carolina Roselli and Ingo Ruczinski and Alexi Runnels and Pamela Russell and Kathleen Ryan and Ester Cerdeira Sabino and Shabnam Salimi and Sejal Salvi and Steven Salzberg and Kevin Sandow and Jireh Santibanez and Karen Schwander and Frank Sciurba and Frédéric Sériès and Amol Shetty and Aniket Shetty and Brian Silver and Robert Skomro and Tanja Smith and Sylvia Smoller and Beverly Snively and Adrienne M. Stilp and Garrett Storm and Elizabeth Streeten and Jessica Lasky Su and Yun Ju Sung and Jody Sylvia and Adam Szpiro and Margaret Taub and Simeon Taylor and Timothy A. Thornton and Machiko Threlkeld and Lesley Tinker and David Tirschwell and Hemant Tiwari and Catherine Tong and Michael Tsai and Dhananjay Vaidya and Tarik Walker and Robert Wallace and Avram Walts and Fei Fei Wang and Heming Wang and Karol Watson and Jennifer Watt and Lu-Chen Weng and Jennifer Wessel and Kayleen Williams and Carla Wilson and James Wilson and Lara Winterkorn and Quenna Wong and Baojun Wu and Huichun Xu and Lisa Yanek and Ivana Yang and Seyedeh Maryam Zekavat and Snow Xueyan Zhao and Wei Zhao and Xiaofeng Zhu},
  year = {2026},
  journal = {Science},
  doi = {10.1126/science.adx2989},
  url = {https://doi.org/10.1126/science.adx2989}
}

RIS

TY  - JOUR
TI  - Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed
AU  - Peter Orchard
AU  - Thomas W. Blackwell
AU  - Linda Kachuri
AU  - Peter J. Castaldi
AU  - Michael H. Cho
AU  - Stephanie A. Christenson
AU  - Peter Durda
AU  - Stacey Gabriel
AU  - Craig P. Hersh
AU  - Scott Huntsman
AU  - Seungyong Hwang
AU  - Roby Joehanes
AU  - Mari Johnson
AU  - Xingnan Li
AU  - Honghuang Lin
AU  - Ching-Ti Liu
AU  - Yongmei Liu
AU  - Angel C. Y. Mak
AU  - Ani W. Manichaikul
AU  - David T. Paik
AU  - Aabida Saferali
AU  - Joshua D. Smith
AU  - Kent D. Taylor
AU  - Russell P. Tracy
AU  - Jiongming Wang
AU  - Mingqiang Wang
AU  - Joshua S. Weinstock
AU  - Jeffrey Weiss
AU  - Heather E. Wheeler
AU  - Ying Zhou
AU  - Sebastian Zöllner
AU  - Joseph C. Wu
AU  - Luisa Mestroni
AU  - Sharon Graw
AU  - Matthew R. G. Taylor
AU  - Victor E. Ortega
AU  - W. Craig Johnson
AU  - Weiniu Gan
AU  - Goncalo Abecasis
AU  - Deborah A. Nickerson
AU  - Namrata Gupta
AU  - Kristin Ardlie
AU  - Prescott G. Woodruff
AU  - Russell P. Bowler
AU  - Deborah A. Meyers
AU  - Alex Reiner
AU  - Charles Kooperberg
AU  - Elad Ziv
AU  - Ramachandran S. Vasan
AU  - Martin G. Larson
AU  - L. Adrienne Cupples
AU  - Edwin K. Silverman
AU  - Stephen S. Rich
AU  - Nancy Heard-Costa
AU  - Hua Tang
AU  - Jerome I. Rotter
AU  - Albert V. Smith
AU  - Daniel Levy
AU  - Unknown
AU  - Unknown
AU  - François Aguet
AU  - Laura J. Scott
AU  - Laura M. Raffield
AU  - Stephen C. J. Parker
AU  - Namiko Abe
AU  - Laura Almasy
AU  - Seth Ament
AU  - Pramod Anugu
AU  - Paul Auer
AU  - Dimitrios Avramopoulos
AU  - Adithya Balasubramanian
AU  - R. Graham Barr
AU  - Lucas Barwick
AU  - Terri Beaty
AU  - Diane Becker
AU  - Lewis Becker
AU  - Amber Beitelshees
AU  - Takis Benos
AU  - Marcos Bezerra
AU  - Joshua Bis
AU  - Jennifer Brody
AU  - Ulrich Broeckel
AU  - Jai Broome
AU  - Karen Bunting
AU  - Erin Buth
AU  - Vincent Carey
AU  - Cara Carty
AU  - Richard Casaburi
AU  - Mark Chaffin
AU  - Christy Chang
AU  - Yi-Cheng Chang
AU  - Sameer Chavan
AU  - Bo-Juen Chen
AU  - Wei-Min Chen
AU  - Seung Hoan Choi
AU  - Lee-Ming Chuang
AU  - Ren-Hua Chung
AU  - Matthew Conomos
AU  - Elaine Cornell
AU  - Carolyn Crandall
AU  - James Crapo
AU  - Jeffrey Curtis
AU  - Coleen Damcott
AU  - Sean David
AU  - Lisa de las Fuentes
AU  - Paul de Vries
AU  - Ranjan Deka
AU  - Dawn DeMeo
AU  - Scott Devine
AU  - Huyen Dinh
AU  - Harsha Doddapaneni
AU  - Qing Duan
AU  - Ravi Duggirala
AU  - Charles Eaton
AU  - Lynette Ekunwe
AU  - Adel El Boueiz
AU  - Leslie Emery
AU  - Charles Farber
AU  - Jesse Farek
AU  - Nora Franceschini
AU  - Chris Frazar
AU  - Mao Fu
AU  - Stephanie M. Fullerton
AU  - Lucinda Fulton
AU  - Shanshan Gao
AU  - Yan Gao
AU  - Margery Gass
AU  - Heather Geiger
AU  - Auyon Ghosh
AU  - Chris Gignoux
AU  - David Glahn
AU  - Stephanie Gogarten
AU  - Da-Wei Gong
AU  - Harald Goring
AU  - Daniel Grine
AU  - C. Charles Gu
AU  - Yue Guan
AU  - Michael Hall
AU  - Yi Han
AU  - Daniel Harris
AU  - Ben Heavner
AU  - David Herrington
AU  - Brian Hobbs
AU  - Elliott Hong
AU  - Karin Hoth
AU  - Chao (Agnes) Hsiung
AU  - Jianhong Hu
AU  - Yi-Jen Hung
AU  - Haley Huston
AU  - Chii Min Hwu
AU  - Rebecca Jackson
AU  - Deepti Jain
AU  - Jill Johnsen
AU  - Rich Johnston
AU  - Kimberly Jones
AU  - Michael Kessler
AU  - Alyna Khan
AU  - Ziad Khan
AU  - Wonji Kim
AU  - John Kimoff
AU  - Greg Kinney
AU  - Holly Kramer
AU  - Christoph Lange
AU  - Ethan Lange
AU  - Cathy Laurie
AU  - Cecelia Laurie
AU  - Meryl LeBoff
AU  - Sandra Lee
AU  - Wen-Jane Lee
AU  - David Levine
AU  - Joshua Lewis
AU  - Yun Li
AU  - Xihong Lin
AU  - Simin Liu
AU  - Yu Liu
AU  - Barry Make
AU  - Alisa Manning
AU  - JoAnn Manson
AU  - Lisa Martin
AU  - Melissa Marton
AU  - Susan Mathai
AU  - Susanne May
AU  - Patrick McArdle
AU  - Merry-Lynn McDonald
AU  - Sean McFarland
AU  - Daniel McGoldrick
AU  - Caitlin McHugh
AU  - Hao Mei
AU  - James Meigs
AU  - Vipin Menon
AU  - Nancy Min
AU  - Matt Moll
AU  - Zeineen Momin
AU  - May Montasser
AU  - Josyf C Mychaleckyj
AU  - Rakhi Naik
AU  - Take Naseri
AU  - Pradeep Natarajan
AU  - Sarah C. Nelson
AU  - Bonnie Neltner
AU  - Caitlin Nessner
AU  - Osuji Nkechinyere
AU  - Jeff O'Connell
AU  - Tim O’Connor
AU  - Heather Ochs-Balcom
AU  - Geoffrey Okwuonu
AU  - James Pankow
AU  - Cora Parker
AU  - Gina Peloso
AU  - Juan Manuel Peralta
AU  - Marco Perez
AU  - James Perry
AU  - Ulrike Peters
AU  - Lawrence S Phillips
AU  - Toni Pollin
AU  - Julia Powers Becker
AU  - Meher Preethi Boorgula
AU  - Bruce Psaty
AU  - Dandi Qiao
AU  - Nicholas Rafaels
AU  - Mahitha Rajendran
AU  - Laura Rasmussen-Torvik
AU  - Aakrosh Ratan
AU  - Robert Reed
AU  - Elizabeth Regan
AU  - Muagututi‘a Sefuiva Reupena
AU  - Rebecca Robillard
AU  - Carolina Roselli
AU  - Ingo Ruczinski
AU  - Alexi Runnels
AU  - Pamela Russell
AU  - Kathleen Ryan
AU  - Ester Cerdeira Sabino
AU  - Shabnam Salimi
AU  - Sejal Salvi
AU  - Steven Salzberg
AU  - Kevin Sandow
AU  - Jireh Santibanez
AU  - Karen Schwander
AU  - Frank Sciurba
AU  - Frédéric Sériès
AU  - Amol Shetty
AU  - Aniket Shetty
AU  - Brian Silver
AU  - Robert Skomro
AU  - Tanja Smith
AU  - Sylvia Smoller
AU  - Beverly Snively
AU  - Adrienne M. Stilp
AU  - Garrett Storm
AU  - Elizabeth Streeten
AU  - Jessica Lasky Su
AU  - Yun Ju Sung
AU  - Jody Sylvia
AU  - Adam Szpiro
AU  - Margaret Taub
AU  - Simeon Taylor
AU  - Timothy A. Thornton
AU  - Machiko Threlkeld
AU  - Lesley Tinker
AU  - David Tirschwell
AU  - Hemant Tiwari
AU  - Catherine Tong
AU  - Michael Tsai
AU  - Dhananjay Vaidya
AU  - Tarik Walker
AU  - Robert Wallace
AU  - Avram Walts
AU  - Fei Fei Wang
AU  - Heming Wang
AU  - Karol Watson
AU  - Jennifer Watt
AU  - Lu-Chen Weng
AU  - Jennifer Wessel
AU  - Kayleen Williams
AU  - Carla Wilson
AU  - James Wilson
AU  - Lara Winterkorn
AU  - Quenna Wong
AU  - Baojun Wu
AU  - Huichun Xu
AU  - Lisa Yanek
AU  - Ivana Yang
AU  - Seyedeh Maryam Zekavat
AU  - Snow Xueyan Zhao
AU  - Wei Zhao
AU  - Xiaofeng Zhu
PY  - 2026
JO  - Science
DO  - 10.1126/science.adx2989
UR  - https://doi.org/10.1126/science.adx2989
ER  - 

APA

Orchard, P., Blackwell, T. W., Kachuri, L., Castaldi, P. J., Cho, M. H., Christenson, S. A., Durda, P., Gabriel, S., Hersh, C. P., Huntsman, S., Hwang, S., Joehanes, R., Johnson, M., Li, X., Lin, H., Liu, C., Liu, Y., Mak, A. C. Y., Manichaikul, A. W., Paik, D. T., Saferali, A., Smith, J. D., Taylor, K. D., Tracy, R. P., Wang, J., Wang, M., Weinstock, J. S., Weiss, J., Wheeler, H. E., Zhou, Y., Zöllner, S., Wu, J. C., Mestroni, L., Graw, S., Taylor, M. R. G., Ortega, V. E., Johnson, W. C., Gan, W., Abecasis, G., Nickerson, D. A., Gupta, N., Ardlie, K., Woodruff, P. G., Bowler, R. P., Meyers, D. A., Reiner, A., Kooperberg, C., Ziv, E., Vasan, R. S., Larson, M. G., Cupples, L. A., Silverman, E. K., Rich, S. S., Heard-Costa, N., Tang, H., Rotter, J. I., Smith, A. V., Levy, D., Unknown, Unknown, Aguet, F., Scott, L. J., Raffield, L. M., Parker, S. C. J., Abe, N., Almasy, L., Ament, S., Anugu, P., Auer, P., Avramopoulos, D., Balasubramanian, A., Barr, R. G., Barwick, L., Beaty, T., Becker, D., Becker, L., Beitelshees, A., Benos, T., Bezerra, M., Bis, J., Brody, J., Broeckel, U., Broome, J., Bunting, K., Buth, E., Carey, V., Carty, C., Casaburi, R., Chaffin, M., Chang, C., Chang, Y., Chavan, S., Chen, B., Chen, W., Choi, S. H., Chuang, L., Chung, R., Conomos, M., Cornell, E., Crandall, C., Crapo, J., Curtis, J., Damcott, C., David, S., Fuentes, L. D. L., Vries, P. D., Deka, R., DeMeo, D., Devine, S., Dinh, H., Doddapaneni, H., Duan, Q., Duggirala, R., Eaton, C., Ekunwe, L., Boueiz, A. E., Emery, L., Farber, C., Farek, J., Franceschini, N., Frazar, C., Fu, M., Fullerton, S. M., Fulton, L., Gao, S., Gao, Y., Gass, M., Geiger, H., Ghosh, A., Gignoux, C., Glahn, D., Gogarten, S., Gong, D., Goring, H., Grine, D., Gu, C. C., Guan, Y., Hall, M., Han, Y., Harris, D., Heavner, B., Herrington, D., Hobbs, B., Hong, E., Hoth, K., Hsiung, C. (., Hu, J., Hung, Y., Huston, H., Hwu, C. M., Jackson, R., Jain, D., Johnsen, J., Johnston, R., Jones, K., Kessler, M., Khan, A., Khan, Z., Kim, W., Kimoff, J., Kinney, G., Kramer, H., Lange, C., Lange, E., Laurie, C., Laurie, C., LeBoff, M., Lee, S., Lee, W., Levine, D., Lewis, J., Li, Y., Lin, X., Liu, S., Liu, Y., Make, B., Manning, A., Manson, J., Martin, L., Marton, M., Mathai, S., May, S., McArdle, P., McDonald, M., McFarland, S., McGoldrick, D., McHugh, C., Mei, H., Meigs, J., Menon, V., Min, N., Moll, M., Momin, Z., Montasser, M., Mychaleckyj, J. C., Naik, R., Naseri, T., Natarajan, P., Nelson, S. C., Neltner, B., Nessner, C., Nkechinyere, O., O'Connell, J., O’Connor, T., Ochs-Balcom, H., Okwuonu, G., Pankow, J., Parker, C., Peloso, G., Peralta, J. M., Perez, M., Perry, J., Peters, U., Phillips, L. S., Pollin, T., Becker, J. P., Boorgula, M. P., Psaty, B., Qiao, D., Rafaels, N., Rajendran, M., Rasmussen-Torvik, L., Ratan, A., Reed, R., Regan, E., Reupena, M. S., Robillard, R., Roselli, C., Ruczinski, I., Runnels, A., Russell, P., Ryan, K., Sabino, E. C., Salimi, S., Salvi, S., Salzberg, S., Sandow, K., Santibanez, J., Schwander, K., Sciurba, F., Sériès, F., Shetty, A., Shetty, A., Silver, B., Skomro, R., Smith, T., Smoller, S., Snively, B., Stilp, A. M., Storm, G., Streeten, E., Su, J. L., Sung, Y. J., Sylvia, J., Szpiro, A., Taub, M., Taylor, S., Thornton, T. A., Threlkeld, M., Tinker, L., Tirschwell, D., Tiwari, H., Tong, C., Tsai, M., Vaidya, D., Walker, T., Wallace, R., Walts, A., Wang, F. F., Wang, H., Watson, K., Watt, J., Weng, L., Wessel, J., Williams, K., Wilson, C., Wilson, J., Winterkorn, L., Wong, Q., Wu, B., Xu, H., Yanek, L., Yang, I., Zekavat, S. M., Zhao, S. X., Zhao, W., & Zhu, X. (2026). Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed. Science. https://doi.org/10.1126/science.adx2989