• NAR Genomics & Bioinformatics  ·  January 7, 2025

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

    Mariia Minaeva, Júlia Domingo, Philipp Rentzsch, Tuuli Lappalainen

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  • Alzheimer's & Dementia  ·  January 3, 2025

    Multi-omics profiling of Alzheimer’s disease in multi-ethnic populations.

    Joseph S. Reddy, Laura M Heath, Mariet Allen, William L. Poehlman, Yanling Wang, Ryan Johnson, Erming Wang, Yiyi Ma, Charlotte C.G. Ho, Katia de Paiva Lopes, Abby Vander Linden, Zachary Quicksall, Xianfeng Chen, Saurabh Baheti, Thuy Nguyen, Geovanna Yepez-Sisalema, Adriana O Mitchell, Stephanie R Oatman, Xue Wang, Minerva M. Carrasquillo, Alexi Runnels, Andrew F Teich, Thomas G. Beach, Geidy E Serrano, Todd Golde, Lisa L. Barnes, Minghui Wang, Vahram Haroutunian, Bin Zhang, Philip L. De Jager, David A. Bennett, Nicholas T Seyfried, Anna Greenwood, Nilüfer Ertekin-Taner, Accelerating Medicines Partnership for Alzheimer’s Disease (AMP-AD) Diversity Initiative

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  • Alzheimer's & Dementia  ·  January 3, 2025

    Unraveling temporal transcription dynamics of molecular FTD and ALS subtypes.

    Ting Shen, Barbara E Spencer, Vivianna M Van Deerlin, Hemali Phatnani, Eddie B Lee, Corey T McMillan, NYGC ALS Consortium

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  • Nature Communications  ·  January 2, 2025

    STAT1 regulates immune-mediated intestinal stem cell proliferation and epithelial regeneration.

    Shuichiro Takashima, Roshan Sharma, Winston Chang, Marco Calafiore, Ya-Yuan Fu, Suze A. Jansen, Takahiro Ito, Anastasiya Egorova, Jason Kuttiyara, Viktor Arnhold, Jessica Sharrock, Endi Santosa, Ojasvi Chaudhary, Heather Geiger, Hiromi Iwasaki, Chen Liu, Joseph Sun, Nicolas Robine, Linas Mazutis, Caroline A. Lindemans & Alan M. Hanash

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  • American Journal of Medical Genetics: Neuropsychiatric Genetics  ·  January 2, 2025

    Identification of Transdiagnostic Childhood Externalizing Pathology Within an Electronic Medical Records Database and Application to the Analysis of Rare Copy Number Variation.

    India A. Reddy, Lide Han, Sandra Sanchez-Roige, Maria Niarchou, Douglas M. Ruderfer, Lea K. Davis

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  • bioRxiv  ·  January 2, 2025  ·  Preprint

    Single-cell mapping of regulatory DNA:Protein interactions.

    Wei-Yu Chi, Sang-Ho Yoon, Levan Mekerishvili, Saravanan Ganesan, Catherine Potenski, Franco Izzo, Dan Landau, Ivan Raimondi

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  • Clinical and Translational Science  ·  December 31, 2024

    Rapid identification and phenotyping of nonalcoholic fatty liver disease patients using a machine-based approach in diverse healthcare systems.

    Anna O. Basile, Anurag Verma, Leigh Anne Tang, Marina Serper, Andrew Scanga, Ava Farrell, Brittney Destin, Rotonya M. Carr, Anuli Anyanwu-Ofili, Gunaretnam Rajagopal, Abraham Krikhely, Marc Bessler, Muredach P. Reilly, Marylyn D. Ritchie, Nicholas P. Tatonetti, Julia Wattacheril

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  • Brachytherapy  ·  December 26, 2024

    Development and implementation of a 3d-HDR brachytherapy program for cervical cancer in a sub-Saharan African centre.

    Adedayo Joseph, Onyinye Balogun, Bolanle Adegboyega, Omolola Salako, Omoruyi Credit Irabor, Azeezat Ajose, Samuel Adeneye, Adewumi Alabi, Ephraim Ohazurike, Chibuzor F. Ogamba, Aishat Oladipo, Olufunmilayo Fagbemide, Muhammad Habeebu, David Puthoff, Adedayo Onitilo, Wilfred Ngwa, Chika Nwachukwu

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  • Journal of Neuropathology & Experimental Neurology  ·  December 23, 2024

    An analysis of RNA quality metrics in human brain tissue.

    Jiahe Tian, BS, Tiffany G Lam, BA, Sophie K Ross, BA, Benjamin Ciener, BA, Sandra Leskinen, MA, Sharanya Sivakumar, BA, David A Bennett, MD, Vilas Menon, PhD, Guy M McKhann, MD, Alexi Runnels, PhD, Andrew F Teich, MD, PhD

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  • bioRxiv  ·  December 24, 2024  ·  Preprint

    Alternating hemiplegia of childhood associated mutations in Atp1a3 reveal diverse neurological alterations in mice.

    Markus Terrey, Georgii Krivoshein, Scott I. Adamson, Elena Arystarkhova, Laura Anderson, John Szwec, Shelby McKee, Holly Jones, Sara Perkins, Vijay Selvam, Pierre-Alexandre Piec, Dweet Chhaya, Ari Dehn, Aamir Zuberi, Stephen A. Murray, Natalia S. Morsci, Kathleen J. Sweadner, David A. Knowles, Else A. Tolner, Arn M.J.M. van den Maagdenberg, Cathleen M. Lutz

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  • Genome Biology  ·  December 18, 2024

    SQUiD: ultra-secure storage and analysis of genetic data for the advancement of precision medicine.

    Jacob Blindenbach, Jiayi Kang, Seungwan Hong, Caline Karam, Thomas Lehner & Gamze Gürsoy

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  • medRxiv  ·  December 8, 2024  ·  Preprint

    Epigenome-wide Association Analysis of Mitochondrial Heteroplasmy Provides Insight into Molecular Mechanisms of Disease.

    Meng Lai, Kyeezu Kim, Yinan Zheng, Christina A. Castellani, Scott M. Ratliff, Mengyao Wang, Xue Liu, Jeffrey Haessler, Tianxiao Huan, Lawrence F. Bielak, Wei Zhao, Roby Joehanes, Jiantao Ma, Xiuqing Guo, JoAnn E. Manson, Megan L. Grove, Jan Bressler, Kent D. Taylor, Tuuli Lappalainen, Silva Kasela, Thomas W. Blackwell, Nicole J. Lake, Jessica D. Faul, Kendra R. Ferrier, Lifang Hou, Charles Kooperberg, Alexander P. Reiner, Kai Zhang, Patricia A. Peyser, Myriam Fornage, Eric Boerwinkle, Laura M. Raffield, April P. Carson, Stephen S. Rich, Yongmei Liu, Daniel Levy, Jerome I. Rotter, Jennifer A. Smith, Dan E. Arking, Chunyu Liu, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium.

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  • medRxiv  ·  December 13, 2024  ·  Preprint

    Deriving Mendelian Randomization-based Causal Networks of Brain Imaging Phenotypes and Bipolar Disorder.

    Shane O’Connell, Brielin C. Brown, Dara M. Cannon, Pilib Ó Broin, David A. Knowles, Nadine Parker, Dag Alnæs, Lars T. Westlye, Saikat Banerjee, Leila Nabulsi, Emma Corley, Ole A. Andreassen, Niamh Mullins

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  • medRxiv  ·  December 8, 2024  ·  Preprint

    Leveraging functional annotations to map rare variants associated with Alzheimer’s disease with gruyere.

    Anjali Das, Chirag Lakhani, Chloé Terwagne, Jui-Shan Lin, Tatsuhiko Naito, Towfique Raj, David A Knowles

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  • American Journal of Human Genetics  ·  December 5, 2024

    Employing effective recruitment and retention strategies to engage a diverse pediatric population in genomics research.

    Michelle A Ramos, Katherine E Bonini, Laura Scarimbolo, Nicole R Kelly, Beverly Insel, Sabrina A Suckiel, Kaitlyn Brown, Miranda Di Biase, Katie M Gallagher, Jessenia Lopez, Karla López Aguiñiga, Priya N Marathe, Estefany Maria, Jacqueline A Odgis, Jessica E Rodriguez, Michelle A Rodriguez, Nairovylex Ruiz, Monisha Sebastin, Nicole M Yelton, Charlotte Cunningham-Rundles, Melvin Gertner, Irma Laguerre, Thomas V McDonald, Patricia E McGoldrick, Mimsie Robinson, Arye Rubinstein, Lisa H Shulman, Trinisha Williams, Steven M Wolf, Elissa G Yozawitz, Randi E Zinberg, Noura S Abul-Husn, Laurie J Bauman, George A Diaz, Bart S Ferket, John M Greally, Vaidehi Jobanputra, Bruce D Gelb, Eimear E Kenny, Melissa P Wasserstein, Carol R Horowitz

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  • Genome Research  ·  December 5, 2024

    An integrative TAD catalog in lymphoblastoid cell lines discloses the functional impact of deletions and insertions in human genomes.

    Chong Li, Marc Jan Bonder, Sabriya Syed, Matthew Jensen; Human Genome Structural Variation Consortium (HGSVC); HGSVC Functional Analysis Working Group; Mark B Gerstein , Michael C Zody, Mark J P Chaisson, Michael E Talkowski, Tobias Marschall, Jan O Korbel, Evan E Eichler, Charles Lee, Xinghua Shi

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  • BMC Cancer  ·  December 2, 2024

    Patterns of breast cancer locoregional relapse, metastasis, and subtypes in Ghana.

    Gloria Agyekum Boaitey, Rachel Martini, Brian Stonaker, Ernest Osei Bonsu, Ernest Adjei, Ishmael Kyei, Mavis Bobie Ansah, Lisa Newman, Christian Obirikorang, Melissa B. Davis & Linda Ahenkorah Fondjo

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  • Science  ·  November 28, 2024

    A panoramic view of cell population dynamics in mammalian aging.

    Zehao Zhang, Chloe Schaefer, Weirong Jiang, Ziyu Lu, Jasper Lee, Andras Sziraki, Abdulraouf Abdulraouf, Brittney Wick, Maximilian Haeussler, Zhuoyan Li, Gesmira Molla, Rahul Satija, Wei Zhou, Junyue Cao

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  • Nature Genetics  ·  November 29, 2024

    Characterizing the evolutionary dynamics of cancer proliferation in single-cell clones with SPRINTER.

    Olivia Lucas, Sophia Ward, Rija Zaidi, Abigail Bunkum, Alexander M. Frankell, David A. Moore, Mark S. Hill, Wing Kin Liu, Daniele Marinelli, Emilia L. Lim, Sonya Hessey, Cristina Naceur-Lombardelli, Andrew Rowan, Sukhveer Kaur Purewal-Mann, Haoran Zhai, Michelle Dietzen, Boyue Ding, Gary Royle, Samuel Aparicio, TRACERx Consortium, PEACE Consortium, Nicholas McGranahan, Mariam Jamal-Hanjani, Nnennaya Kanu, Charles Swanton & Simone Zaccaria

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  • bioRxiv  ·  November 27, 2024  ·  Preprint

    Paired CRISPR screens to map gene regulation in cis and trans.

    Xinhe Xue, Zoran Z. Gajic, Christina M. Caragine, Mateusz Legut, Conor Walker, James Y.S. Kim, Xiao Wang, Rachel E. Yan, Hans-Hermann Wessels,Congyi Lu, Neil Bapodra,Gamze Gürsoy, Neville E. Sanjana

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  • Nature Biotechnology  ·  November 21, 2024

    Pooled CRISPR screens with joint single-nucleus chromatin accessibility and transcriptome profiling.

    Rachel E. Yan, Alba Corman, Lyla Katgara, Xiao Wang, Xinhe Xue, Zoran Z. Gajic, Richard Sam, Michael Farid, Samuel M. Friedman, Jungwook Choo, Ivan Raimondi, Shridar Ganesan, Eugene Katsevich, Jeffrey P. Greenfield, Nadia Dahmane & Neville E. Sanjana

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