An alternative splicing switch in FLNB promotes the mesenchymal cell state in human breast cancer by Ji Li, Peter S Choi, Christine L Chaffer, Katherine Labella, Justin H Hwang, Andrew O Giacomelli, Jong Wook Kim, Nina Ilic, John G Doench, Seav Huong Ly, Chao Dai, Kimberly Hagel, Andrew L Hong, Ole Gjoerup, Shom Goel, Jennifer Y Ge, David E Root, Jean J Zhao, Angela N Brooks, Robert A Weinberg, William C Hahn

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Gene-centric functional dissection of human genetic variation uncovers regulators of hematopoiesis by Satish K Nandakumar, Sean K McFarland, Laura M Mateyka, Caleb A Lareau, Jacob C Ulirsch, Leif S Ludwig, Gaurav Agarwal, Jesse M Engreitz, Bartlomiej Przychodzen, Marie McConkey, Glenn S Cowley, John G Doench, Jaroslaw P Maciejewski, Benjamin L Ebert, David E Root, Vijay G Sankaran

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Machine learning enables new insights into genetic contributions to liver fat accumulation by Mary E. Haas, James P. Pirruccello, Samuel N. Friedman, Minxian Wang, Connor A. Emdin, Veeral H. Ajmera, Tracey G. Simon, Julian R. Homburger, Xiuqing Guo, Matthew Budoff, Kathleen E. Corey, Alicia Y. Zhou, Anthony Philippakis, Patrick T. Ellinor, Rohit Loomba, Puneet Batra, Amit V. Khera

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Detecting sample swaps in diverse NGS data types using linkage disequilibrium by Nauman Javed, Yossi Farjoun, Tim J. Fennell, Charles B. Epstein, Bradley E. Bernstein, Noam Shoresh

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Mouse mutants in schizophrenia risk genes GRIN2A and AKAP11 show EEG abnormalities in common with schizophrenia patients by Linnea E. Herzog, Lei Wang, Eunah Yu, Soonwook Choi, Zohreh Farsi, Bryan J. Song, Jen Q. Pan, Morgan Sheng

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Mitogenic and progenitor gene programmes in single pilocytic astrocytoma cells by Zachary J. Reitman, Brenton R. Paolella, Guillaume Bergthold, Kristine Pelton, Sarah Becker, Robert Jones, Claire E. Sinai, Hayley Malkin, Ying Huang, Leslie Grimmet, Zachary T. Herbert, Yu Sun, Jessica L. Weatherbee, John A. Alberta, John F. Daley, Orit Rozenblatt-Rosen, Alexandra L. Condurat, Kenin Qian, Prasidda Khadka, Rosalind A. Segal, Daphne Haas-Kogan, Mariella G. Filbin, Mario L. Suva, Aviv Regev, Charles D. Stiles, Mark W. Kieran, Liliana Goumnerova, Keith L. Ligon, Alex K. Shalek, Pratiti Bandopadhayay, Rameen Beroukhim

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Parallel Single-Cell RNA-Seq and Genetic Recording Reveals Lineage Decisions in Developing Embryoid Bodies by Ik Soo Kim, Jingyi Wu, Gilbert J. Rahme, Sofia Battaglia, Atray Dixit, Elizabeth Gaskell, Huidong Chen, Luca Pinello, Bradley E. Bernstein

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Comprehensive mutational scanning of EGFR reveals TKI sensitivities of extracellular domain mutants by Tikvah K. Hayes, Elisa Aquilanti, Nicole S. Persky, Xiaoping Yang, Erica E. Kim, Lisa Brenan, Amy B. Goodale, Douglas Alan, Ted Sharpe, Robert E. Shue, Lindsay Westlake, Lior Golomb, Brianna R. Silverman, Myshal D. Morris, Ty Running Fisher, Eden Beyene, Yvonne Y. Li, Andrew D. Cherniack, Federica Piccioni, J. Kevin Hicks, Andrew S. Chi, Daniel P. Cahill, Jorg Dietrich, Tracy T. Batchelor, David E. Root, Cory M. Johannessen, Matthew Meyerson

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Copy-number and gene dependency analysis reveals partial copy loss of wild-type SF3B1 as a novel cancer vulnerability by Brenton R Paolella, William J Gibson, Laura M Urbanski, John A Alberta, Travis I Zack, Pratiti Bandopadhayay, Caitlin A Nichols, Pankaj K Agarwalla, Meredith S Brown, Rebecca Lamothe, Yong Yu, Peter S Choi, Esther A Obeng, Dirk Heckl, Guo Wei, Belinda Wang, Aviad Tsherniak, Francisca Vazquez, Barbara A Weir, David E Root, Glenn S Cowley, Sara J Buhrlage, Charles D Stiles, Benjamin L Ebert, William C Hahn, Robin Reed, Rameen Beroukhim

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P676: Deciphering the collagen code: Navigating variant curation complexities in skeletal disorders by Pamela Ajuyah Robertson, Alicia Byrne, Julie Ratliff, Audrey O'Neill, Marina DiStefano, Deepika Burkardt, Carlos Ferreira, Kerry Brown

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Variance-quantitative trait loci enable systematic discovery of gene-environment interactions for cardiometabolic serum biomarkers by Kenneth E. Westerman, Timothy D. Majarian, Franco Giulianini, Dong-Keun Jang, Jenkai Miao, Jose C. Florez, Han Chen, Daniel I. Chasman, Miriam S. Udler, Alisa K. Manning, Joanne B. Cole

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SYNTHETIC DATA IN MACHINE LEARNING FOR PATHOLOGY by Richard J. Chen, Ming Y. Lu, Tiffany Y. Chen, Drew F.K. Williamson, Faisal Mahmood

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Cross-modal autoencoder framework learns holistic representations of cardiovascular state by Adityanarayanan Radhakrishnan, Sam F. Friedman, Shaan Khurshid, Kenney Ng, Puneet Batra, Steven A. Lubitz, Anthony A. Philippakis, Caroline Uhler

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P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies* by Marina DiStefano, Ryan Webb, Hannah McCurry, Shannon McNulty Gray, Swati Tomar, Prasad Kopparapu, Eleanor Broeren, Kezang Tshering, Alan Beggs, Enrico Silvio Bertini, Adele D'Amico, Sandra Donkervoort, James Dowling, Fabiana Fattori, Ana Ferreiro, Casie Genetti, Hernan Gonorazky, Svetlana Gorokhova, Amanda Lindy, Livija Medne, Sander Pajusalu, Katarina Pelin, John Rendu, Matteo Vatta, Tom Winder, Hui Yang, Grace Yoon, Ozge Ceyhan-Birsoy, Carsten Bönnemann

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Gut bacterial metabolites modulate endoplasmic reticulum stress by Xiaobo Ke, Kwontae You, Matthieu Pichaud, Henry J. Haiser, Daniel B. Graham, Hera Vlamakis, Jeffrey A. Porter, Ramnik J. Xavier

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The impact of non-additive genetic associations on age-related complex diseases by Marta Guindo-Martínez, Ramon Amela, Silvia Bonàs-Guarch, Montserrat Puiggròs, Cecilia Salvoro, Irene Miguel-Escalada, Caitlin E. Carey, Joanne B. Cole, Sina Rüeger, Elizabeth Atkinson, Aaron Leong, Friman Sanchez, Cristian Ramon-Cortes, Jorge Ejarque, Duncan S. Palmer, Mitja Kurki, FinnGen Consortium, Krishna Aragam, Jose C. Florez, Rosa M. Badia, Josep M. Mercader, David Torrents

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Silhouette images enable estimation of body fat distribution and associated cardiometabolic risk by Marcus D. R. Klarqvist, Saaket Agrawal, Nathaniel Diamant, Patrick T. Ellinor, Anthony Philippakis, Kenney Ng, Puneet Batra, Amit V. Khera

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Genetic factors affecting storage and utilization of lipids during dormancy in Mycobacterium tuberculosis by Alexander Sturm, Penny Sun, Julian Avila-Pacheco, Anne E. Clatworthy, Zohar Bloom-Ackermann, Michael G. Wuo, James E. Gomez, Soomin Jin, Clary B. Clish, Laura L. Kiessling, Deborah T. Hung

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Design and user experience testing of a polygenic score report: a qualitative study of prospective users by Deanna G. Brockman, Lia Petronio, Jacqueline S. Dron, Bum Chul Kwon, Trish Vosburg, Lisa Nip, Andrew Tang, Mary O’Reilly, Niall Lennon, Bang Wong, Kenney Ng, Katherine H. Huang, Akl C. Fahed, Amit V. Khera

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Bayesian multivariate genetic analysis improves translational insights by Sarah M. Urbut, Satoshi Koyama, Whitney Hornsby, Rohan Bhukar, Sumeet Kheterpal, Buu Truong, Margaret S. Selvaraj, Benjamin Neale, Christopher J. O’Donnell, Gina M. Peloso, Pradeep Natarajan

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