Preprint > Page 16
  • bioRxiv  ·  October 17, 2023  ·  Preprint

    Detecting significantly recurrent genomic connections from simple and complex rearrangements in the cancer genome.

    Shu Zhang, Kiran H Kumar, Ofer Shapira, Xiaotong Yao, Jeremiah Wala, Frank Dubois, Rose Gold, James E. Haber, Andrew Cherniack, Marcin Imielinski, Simona Dalin, Rameen Beroukhim

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  • bioRxiv  ·  October 12, 2023  ·  Preprint

    A sequence context-based germline filter for structural variant calling from tumor samples without paired normal.

    Wolu Chukwu, Siyun Lee, Alex Crane, Shu Zhang, Ipsa Mittra, Marcin Imieliński, Rameen Beroukhim, Frank Dubois, Simona Dalin

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  • bioRxiv  ·  September 12, 2023  ·  Preprint

    Multi-OMIC analysis of Huntington disease reveals a neuroprotective astrocyte state.

    Fahad Paryani, Ji-Sun Kwon, Chris W Ng, Nacoya Madden, Kenneth Ofori, Alice Tang, Hong Lu, Juncheng Li, Aayushi Mahajan, Shawn M. Davidson, Anna Basile, Caitlin McHugh, Jean Paul Vonsattel, Richard Hickman, Michael Zody, David E. Houseman, James E. Goldman, Andrew E. Yoo, Vilas Menon, Osama Al-Dalahmah

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  • bioRxiv  ·  September 12, 2023  ·  Preprint

    Cas13d-mediated isoform-specific RNA knockdown with a unified computational and experimental toolbox.

    Megan D Schertzer, Andrew Stirn, Keren Isaev, Laura Pereira, Anjali Das, Claire Harbison, Stella H Park, Hans-Hermann Wessels, Neville E Sanjana, David A Knowles

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  • medRxiv  ·  September 12, 2023  ·  Preprint

    Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.

    Alexandra C Martin Geary, Alexander JM Blakes, Ruebena Dawes, Scott D Findlay, View ORCID ProfileJenny C Lord, Susan Walker, Jonathan Talbot-Martin, Nechama Wieder, Elston N D’Souza, Maria Fernandes, Sarah Hilton, Nayana Lahiri, Christopher Campbell, Sarah Jenkinson, Christian GEL De Goede, Emily R Anderson, Christopher B Burge, Stephan J Sanders, Jamie Ellingford, Diana Baralle, Siddharth Banka, Nicola Whiffin

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  • bioRxiv  ·  July 19, 2023  ·  Preprint

    Schizophrenia Risk Mapping and Functional Engineering of the 3D Genome in Three Neuronal Subtypes.

    Samuel K. Powell, Will Liao, Callan O’Shea, Sarah Kammourh, Sadaf Ghorbani, Raymond Rigat, Rahat Elahi, PJ Michael Deans, Derek J. Le, Poonam Agarwal, Wei Qiang Seow, Kevin C. Wang, Schahram Akbarian, Kristen J. Brennand

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  • medRxiv  ·  June 29, 2023  ·  Preprint

    Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed Whole Genome Sequencing Study.

    Yuxuan Wang, Margaret Sunitha Selvaraj, Xihao Li, Zilin Li, Jacob A Holdcraft, Donna K Arnett, Joshua C Bis, John Blangero, Eric Boerwinkle, Donald W Bowden, Brian E Cade, Jenna C Carlson, April P Carson, Yii-Der Ida Chen, Joanne E Curran, Paul S de Vries, Susan K Dutcher, Patrick T Ellinor, James S Floyd, Myriam Fornage, Barry I Freedman, Stacey Gabriel, Soren Germer, Richard A Gibbs, Xiuqing Guo, Jiang He, Nancy Heard-Costa, Bertha Hildalgo, Lifang Hou, Marguerite R Irvin, Roby Joehanes, Robert C Kaplan, Sharon LR Kardia, Tanika N Kelly, Ryan Kim, Charles Kooperberg, Brian G Kral, Daniel Levy, Changwei Li, Chunyu Liu, Don Lloyd-Jone, Ruth JF Loos, Michael C Mahaney, Lisa W Martin, Rasika A Mathias, Ryan L Minster, Braxton D Mitchell, May E Montasser, Alanna C Morrison, Joanne M Murabito, Take Naseri, Jeffrey R O’Connell, Nicholette D Palmer, Michael H Preuss, Bruce M Psaty, Laura M Raffield, Dabeeru C Rao, Susan Redline, Alexander P Reiner, Stephen S Rich, Muagututi’a Sefuiva Ruepena, Wayne H-H Sheu, Jennifer A Smith, Albert Smith, Hemant K Tiwari, Michael Y Tsai, Karine A Viaud-Martinez, Zhe Wang, Lisa R Yanek, Wei Zhao, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Jerome I Rotter, Xihong Lin, Pradeep Natarajan, Gina M Peloso

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  • bioRxiv  ·  June 26, 2023  ·  Preprint

    Interaction molecular QTL mapping discovers cellular and environmental modifiers of genetic regulatory effects.

    Silva Kasela, François Aguet, Sarah Kim-Hellmuth, Brielin C. Brown, Daniel C. Nachun, Russell P. Tracy, Peter Durda, Yongmei Liu, Kent D. Taylor, W. Craig Johnson, David Van Den Berg, Stacey Gabriel, Namrata Gupta, Joshua D. Smith, Thomas W. Blackwell, Jerome I. Rotter, Kristin G. Ardlie, Ani Manichaikul, Stephen E. Rich, R. Graham Barr and Tuuli Lappalainen

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  • bioRxiv  ·  June 14, 2023  ·  Preprint

    RAVER1 interconnects lethal EMT and miR/RISC activity by the control of alternative splicing.

    Alice Wedler, Nadine Bley, Markus Glass, Simon Müller, Laura Schian, Kingsley Benjamin Obika, Marcell Lederer, Claudia Misiak, Tommy Fuchs, Marcel Koehn, Roland Jacob, Tony Gutschner, Christian Ihling, Andrea Sinz, Stefan Huettelmaier

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