Preprint > Page 15
  • bioRxiv  ·  March 14, 2024  ·  Preprint

    Enhancer-targeted CRISPR-Activation Rescues Haploinsufficient Autism Susceptibility Genes.

    eGeorge T Chen, Gayatri Nair, Aubrey J Osorio, Sandra M Holley, Kimiya Ghassemzadeh, Jose G Gonzalez, Congyi Lu, Neville E Sanjana, Carlos Cepeda, Daniel Geschwind

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  • bioRxiv  ·  March 7, 2024  ·  Preprint

    Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation.

    Jonas A. Gustafson, Sophia B. Gibson, Nikhita Damaraju, Miranda PG Zalusky, Kendra Hoekzema, David Twesigomwe, Lei Yang, Anthony A. Snead, Phillip A. Richmond, Wouter De Coster, Nathan D. Olson, Andrea Guarracino, Qiuhui Li, Angela L. Miller, Joy Goffena, Zachery Anderson, Sophie HR Storz, Sydney A. Ward, Maisha Sinha, Claudia Gonzaga-Jauregui, Wayne E. Clarke, Anna O. Basile, André Corvelo, Catherine Reeves, Adrienne Helland, Rajeeva Lochan Musunuri, Mahler Revsine, Karynne E. Patterson, Cate R. Paschal, Christina Zakarian, Sara Goodwin, Tanner D. Jensen, Esther Robb, The 1000 Genomes ONT Sequencing Consortium, University of Washington Center for Rare Disease Research (UW-CRDR), Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium, W. Richard McCombie, Fritz J. Sedlazeck, Justin M. Zook, Stephen B. Montgomery, Erik Garrison, Mikhail Kolmogorov, Michael C. Schatz, Richard N. McLaughlin Jr., Harriet Dashnow, Michael C. Zody, Matt Loose, Miten Jain, Evan E. Eichler, Danny E. Miller

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  • bioRxiv.  ·  February 11, 2024  ·  Preprint

    The Genotype and Phenotypes in Families (GPF) platform manages the large and complex data at SFARI.

    Liubomir Chorbadjiev, Murat Cokol, Zohar Weinstein, Kevin Shi, Chris Fleisch, Nikolay Dimitrov, Svetlin Mladenov, Simon Xu, Jake Hall, Steven Ford, Yoon-ha Lee, Boris Yamrom, Steven Marks, Adriana Munoz, Alex Lash, Natalia Volfovsky, Ivan Iossifov.

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  • bioRxiv  ·  December 31, 2023  ·  Preprint

    Specifying cellular context of transcription factor regulons for exploring context-specific gene regulation programs.

    Mariia Minaeva, Julia Domingo, Philipp Rentzsch, Tuuli Lappalainen

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  • bioRxiv  ·  December 26, 2023  ·  Preprint

    CRISPRmap: Sequencing-free optical pooled screens mapping multi-omic phenotypes in cells and tissue.

    Jiacheng Gu, Abhishek Iyer, Ben Wesley, Angelo Taglialatela, Giuseppe Leuzzi, Sho Hangai, Aubrianna Decker, Ruoyu Gu, Naomi Klickstein, Yuanlong Shuai, Kristina Jankovic, Lucy Parker-Burns, Yinuo Jin, Jia Yi Zhang, Justin Hong, Steve Niu, Jacqueline Chou, Dan A. Landau, Elham Azizi, Edmond M. Chan, Alberto Ciccia, Jellert T. Gaublomme

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  • bioRxiv  ·  November 16, 2023  ·  Preprint

    A Bayesian framework for inferring dynamic intercellular interactions from time-series single-cell data.

    Cameron Park, Shouvik Mani, Nicolas Beltran-Velez, Katie Maurer, Satyen Gohil, Shuqiang Li, Teddy Huang, David A. Knowles, Catherine J. Wu and Elham Azizi

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  • bioRxiv  ·  November 1, 2023  ·  Preprint

    Small variant benchmark from a complete assembly of X and Y chromosomes.

    Justin Wagner, Nathan D. Olson, Jennifer McDaniel, Lindsay Harris, Brendan J. Pinto, David Jáspez, Adrián Muñoz-Barrera, Luis A. Rubio-Rodríguez, José M. Lorenzo-Salazar, Carlos Flores, Sayed Mohammad Ebrahim Sahraeian, Giuseppe Narzisi, Marta Byrska-Bishop, Uday S Evani, Chunlin Xiao, Juniper A. Lake, Peter Fontana, Craig Greenberg, Donald Freed, Paul C. Boutros, Mohammed Faizal Eeman Mootor, Lisa Murray, Kishwar Shafin, Andrew Carroll, Fritz J Sedlazeck, Melissa Wilson, Justin M. Zook

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  • bioRxiv  ·  October 27, 2023  ·  Preprint

    AlphaMissense is better correlated with functional assays of missense impact than earlier prediction algorithms.

    Alicia Ljungdahl, Sayeh Kohani, Nicholas F. Page, Eloise S. Wells, Emilie M. Wigdor, Shan Dong, Stephan J. Sanders

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  • bioRxiv  ·  October 20, 2023  ·  Preprint

    LKB1 suppresses growth and promotes the internalization of EGFR through the PIKFYVE lipid kinase.

    John Ferrarone, Jerin Thomas, Arun Unni, Yuxiang Zheng, Michal Nagiec, Eric Gardner, Oksana Mashadova, Kate Li, Nikos Koundouros, Antonino Montalbano, Meer Mustafa, Lewis Cantley, John Blenis, Neville Sanjana, Harold Varmus

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