Publication > Page 9
  • American Journal of Human Genetics  ·  October 3, 2024

    Semi-supervised machine learning method for predicting homogeneous ancestry groups to assess Hardy-Weinberg equilibrium in diverse whole-genome sequencing studies.

    Derek Shyr, Rounak Dey, Xihao Li, Hufeng Zhou, Eric Boerwinkle, Steve Buyske, Mark Daly, Richard A Gibbs, Ira Hall, Tara Matise, Catherine Reeves, Nathan O Stitziel, Michael Zody, Benjamin M Neale, Xihong Lin

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  • Genome Research  ·  October 2, 2024

    High-coverage nanopore sequencing of samples from the 1000 Genomes Project 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 B Anderson, Sophie HR Storz, Sydney A Ward, Maisha Sinha, Claudia Gonzaga-Jauregui, Wayne E Clarke, Anna O Basile, Andre Corvelo, Catherine E Reeves, Adrienne Helland, Rajeeva Lochan Musunuri, Mahler Revsine, Karynne E Patterson, Cate Paschal, Christina Zakarian, Sara Goodwin, Tanner D Jensen, Esther Robb, 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, Matthew Loose, Miten Jain, Evan E Eichler and Danny E. Miller

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  • Cell  ·  October 2, 2024

    Private information leakage from single-cell count matrices.

    Conor R. Walker, Xiaoting Li, Manav Chakravarthy, William Lounsbery-Scaife, Yoolim A. Choi, Ritambhara Singh, Gamze Gürsoy

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  • Proceedings of the National Academy of Sciences  ·  September 23, 2024

    Nr2f1 enhancers have distinct functions in controlling Nr2f1 expression during cortical development.

    Zhidong Liu, Athéna R Ypsilanti, Eirene Markenscoff-Papadimitriou, Diane E Dickel, Stephan J Sanders, Shan Dong, Len A Pennacchio, Axel Visel, John L Rubenstein

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  • Nature Genetics  ·  September 24, 2024

    Defining heritability, plasticity, and transition dynamics of cellular phenotypes in somatic evolution.

    Joshua S. Schiffman, Andrew R. D’Avino, Tamara Prieto, Yakun Pang, Yilin Fan, Srinivas Rajagopalan, Catherine Potenski, Toshiro Hara, Mario L. Suvà, Charles Gawad & Dan A. Landau

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  • Muscle & Nerve  ·  September 18, 2024

    Access for ALL in ALS: A large-scale, inclusive, collaborative consortium to unlock the molecular and genetic mechanisms of amyotrophic lateral sclerosis.

    James D. Berry MD, Sabrina Paganoni MD, PhD, Matthew B. Harms MD, Neil Shneider MD, PhD, Jinsy Andrews MD, Timothy M. Miller MD, PhD, Suma Babu MBBS, Alex V. Sherman MS, Brent T. Harris MD, PhD, Frank A. Provenzano PhD, Hemali P. Phatnani PhD, Jeremy Shefner MD, PhD, Mark A. Garret MD, Shaffeeq S. Ladha MD, Amy Y. Tsou MD, Praveena Mohan PhD, Courtney Igne MS, The ALL ALS Consortium, Robert Bowser PhD

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  • Cold Spring Harbor Perspectives in Biology  ·  September 16, 2024

    Glia in Neurodegenerative Disease.

    Gerard Crowley, David Attwell, Hemali Phatnani, Harald Sontheimer and Soyon Hong

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  • American Society of Human Genetics  ·  September 12, 2024

    Semi-supervised machine learning method for predicting homogeneous ancestry groups to assess Hardy-Weinberg equilibrium in diverse whole-genome sequencing studies.

    Derek Shyr, Rounak Dey, Xihao Li, Hufeng Zhou, Eric Boerwinkle, Steve Buyske, Mark Daly, Richard A Gibbs, Ira Hall, Tara Matise, Catherine Reeves, Nathan O Stitziel, Michael Zody, Benjamin M Neale, Xihong Lin

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  • Nature Medicine  ·  September 3, 2024

    A framework for sharing of clinical and genetic data for precision medicine applications.

    Ahmed Elhussein, Ulugbek Baymuradov, NYGC ALS Consortium, Noémie Elhadad, Karthik Natarajan & Gamze Gürsoy

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  • Alzheimer's & Dementia  ·  August 30, 2024

    Bridging the gap: Multi-omics profiling of brain tissue in Alzheimer’s disease and older controls in multi-ethnic populations.

    Joseph S. Reddy, Laura Heath, Abby Vander Linden, Mariet Allen, Katia de Paiva Lopes, Fatemeh Seifar, Erming Wang, Yiyi Ma, William L. Poehlman, Zachary S. Quicksall, Alexi Runnels, Yanling Wang, Duc M. Duong, Luming Yin, Kaiming Xu, Erica S. Modeste, Anantharaman Shantaraman, Eric B. Dammer, Lingyan Ping, Stephanie R. Oatman, Jo Scanlan, Charlotte Ho, Minerva M. Carrasquillo, Merve Atik, Geovanna Yepez, Adriana O. Mitchell, Thuy T. Nguyen, Xianfeng Chen, David X. Marquez, Hasini Reddy, Harrison Xiao, Sudha Seshadri, Richard Mayeux, Stefan Prokop, Edward B. Lee, Geidy E. Serrano, Thomas G. Beach, Andrew F. Teich, Varham Haroutunian, Edward J. Fox, Marla Gearing, Aliza Wingo, Thomas Wingo, James J. Lah, Allan I. Levey, Dennis W. Dickson, Lisa L. Barnes, Philip De Jager, Bin Zhang, David Bennett, Nicholas T. Seyfried, Anna K. Greenwood, Nilüfer Ertekin-Taner

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