• Cell Reports  ·  August 16, 2024

    Autism-associated CHD8 controls reactive gliosis and neuroinflammation via remodeling chromatin in astrocytes.

    Platon Megagiannis, Yuan Mei, Rachel E Yan, Lin Yuan, Jonathan J Wilde, Hailey Eckersberg, Rahul Suresh, Xinzhu Tan, Hong Chen, W Todd Farmer, Kuwook Cha, Phuong Uyen Le, Helene Catoire, Daniel Rochefort, Tony Kwan, Brian A Yee, Patrick Dion, Arjun Krishnaswamy, Jean-Francois Cloutier, Stefano Stifani, Kevin Petrecca, Gene W Yeo, Keith K Murai, Guoping Feng, Guy A Rouleau, Trey Ideker, Neville E Sanjana, Yang Zhou

    link out icon
  • Cell  ·  August 8, 2024

    Multiplexed single-cell characterization of alternative polyadenylation regulators.

    Madeline H Kowalski, Hans-Hermann Wessels, Johannes Linder, Carol Dalgarno, Isabella Mascio, Saket Choudhary, Austin Hartman, Yuhan Hao, Anshul Kundaje, Rahul Satija

    link out icon
  • Muscle & Nerve  ·  August 9, 2024

    Mitochondrial genome variants associated with amyotrophic lateral sclerosis and their haplogroup distribution.

    Marcelo R. S. Briones PhD, João H. Campos PhD, Renata C. Ferreira PhD, Lisa Schneper PhD, Ilda M. Santos MSc, Fernando M. Antoneli PhD, NYGC ALS Consortium, James R. Broach PhD

    link out icon
  • Nature Communications  ·  August 8, 2024

    Multi-omic analysis of Huntington’s disease reveals a compensatory astrocyte state.

    Fahad Paryani, Ji-Sun Kwon, Christopher W. Ng, Kelly Jakubiak, Nacoya Madden, Kenneth Ofori, Alice Tang, Hong Lu, Shengnan Xia, Juncheng Li, Aayushi Mahajan, Shawn M. Davidson, Anna O. Basile, Caitlin McHugh, Jean Paul Vonsattel, Richard Hickman, Michael C. Zody, David E. Housman, James E. Goldman, Andrew S. Yoo, Vilas Menon & Osama Al-Dalahmah

    link out icon
  • Scientific Reports  ·  August 1, 2024

    A methylation risk score for chronic kidney disease: a HyperGEN study.

    Alana C. Jones, Amit Patki, Vinodh Srinivasasainagendra, Bertha A. Hidalgo, Hemant K. Tiwari, Nita A. Limdi, Nicole D. Armstrong, Ninad S. Chaudhary, Bré Minniefield, Devin Absher, Donna K. Arnett, Leslie A. Lange, Ethan M. Lange, Bessie A. Young, Clarissa J. Diamantidis, Stephen S. Rich, Josyf C. Mychaleckyj, Jerome I. Rotter, Kent D. Taylor, Holly J. Kramer, Russell P. Tracy, Peter Durda, Silva Kasela, Tuuli Lappalinen, Yongmei Liu, W. Craig Johnson, David J. Van Den Berg, Nora Franceschini, Simin Liu, Charles P. Mouton, Parveen Bhatti, Steve Horvath, Eric A. Whitsel & Marguerite R. Irvin

    link out icon
  • bioRxiv  ·  July 19, 2024  ·  Preprint

    ALS molecular subtypes are a combination of cellular, genetic, and pathological features learned by deep multiomics classifiers.

    Kathryn ONeill, Regina Shaw, Isobel Bolger, NYGC ALS Consortium, Oliver H Tam, Hemali Phatnani, Molly Gale Hammell

    link out icon
  • Genome Biology  ·  July 18, 2024

    Leveraging neighborhood representations of single-cell data to achieve sensitive DE testing with miloDE.

    Alsu Missarova, Emma Dann, Leah Rosen, Rahul Satija & John Marioni

    link out icon
  • American Journal of Human Genetics  ·  July 11, 2024

    The DARC side of genetics in cancer: Breast cancer disparities.

    Rachel Martini, Melissa B. Davis

    link out icon
  • The EMBO Journal  ·  July 1, 2024

    YTHDC1 m6A-dependent and m6A-independent functions converge to preserve the DNA damage response.

    Daniel Elvira-Blázquez, José Miguel Fernández-Justel, Aida Arcas, Luisa Statello, Enrique Goñi, Jovanna González, Benedetta Ricci, Sara Zaccara, Ivan Raimondi, Maite Huarte

    link out icon
  • Chest Journal  ·  June 28, 2024

    Clinical Impact of Telomere Length Testing for Interstitial Lung Disease.

    David Zhang, Christina M Eckhardt, Claire McGroder, Shannon Benesh, Julie Porcelli, Christopher Depender, Kelsie Bogyo, Joseph Westrich, Amanda Thomas-Wilson, Vaidehi Jobanputra, Christine K Garcia

    link out icon
  • BMC Genomics  ·  June 29, 2024

    Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.

    Tess D. Pottinger, Joshua E. Motelow, Gundula Povysil, Cristiane A. Martins Moreno, Zhong Ren, Hemali Phatnani, The New York Genome Center ALS Sequencing Consortium, Timothy J. Aitman, Javier Santoyo-Lopez, Scottish Genomes Partnership, Hiroshi Mitsumoto, ALS COSMOS Study Group, PLS COSMOS Study Group, GTAC Investigators, David B. Goldstein & Matthew B. Harms

    link out icon
  • Journal of Biomedical Informatics  ·  June 25, 2024

    Privacy-preserving model evaluation for logistic and linear regression using homomorphically encrypted genotype data.

    Seungwan Hong, Yoolim A Choi, Daniel S Joo, Gamze Gürsoy

    link out icon
  • Bioinformatics  ·  June 20, 2024

    SEraster: a rasterization preprocessing framework for scalable spatial omics data analysis.

    Gohta Aihara, Kalen Clifton, Mayling Chen, Zhuoyan Li, Lyla Atta, Brendan F Miller, Rahul Satija, John W Hickey, Jean Fan

    link out icon
  • Developmental Cell  ·  June 14, 2024

    Identifying FUS amyotrophic lateral sclerosis disease signatures in patient dermal fibroblasts.

    Karl Kumbier, Maike Roth, Zizheng Li, Julia Lazzari-Dean, Christopher Waters, Sabrina Hammerlindl, Capria Rinaldi, Ping Huang, Vladislav A. Korobeynikov, New York Genome Center ALS Consortium, Hemali Phatnani, Neil Shneider, Matthew P. Jacobson, Lani F. Wu, Steven J. Altschuler

    link out icon
  • bioRxiv  ·  June 12, 2024  ·  Preprint

    Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database.

    Sanna Gudmundsson, Moriel Singer-Berk, Sarah L. Stenton, Julia K. Goodrich, Michael W. Wilson, Jonah Einson, Nicholas A Watts, Genome Aggregation Database Consortium, Tuuli Lappalainen, Heidi L. Rehm, Daniel G. MacArthur, Anne O’Donnell-Luria

    link out icon
  • Nature Medicine  ·  June 14, 2024

    Ultrasensitive plasma-based monitoring of tumor burden using machine-learning-guided signal enrichment.

    Adam J. Widman, Minita Shah, Amanda Frydendahl, Daniel Halmos, Cole C. Khamnei, Nadia Øgaard, Srinivas Rajagopalan, Anushri Arora, Aditya Deshpande, William F. Hooper, Jean Quentin, Jake Bass, Mingxuan Zhang, Theophile Langanay, Laura Andersen, Zoe Steinsnyder, Will Liao, Mads Heilskov Rasmussen, Tenna Vesterman Henriksen, Sarah Østrup Jensen, Jesper Nors, Christina Therkildsen, Jesus Sotelo, Ryan Brand, Joshua S. Schiffman, Ronak H. Shah, Alexandre Pellan Cheng, Colleen Maher, Lavinia Spain, Kate Krause, Dennie T. Frederick, Wendie den Brok, Caroline Lohrisch, Tamara Shenkier, Christine Simmons, Diego Villa, Andrew J. Mungall, Richard Moore, Elena Zaikova, Viviana Cerda, Esther Kong, Daniel Lai, Murtaza S. Malbari, Melissa Marton, Dina Manaa, Lara Winterkorn, Karen Gelmon, Margaret K. Callahan, Genevieve Boland, Catherine Potenski, Jedd D. Wolchok, Ashish Saxena, Samra Turajlic, Marcin Imielinski, Michael F. Berger, Sam Aparicio, Nasser K. Altorki, Michael A. Postow, Nicolas Robine, Claus Lindbjerg Andersen & Dan A. Landau

    link out icon
  • Cell Reports  ·  June 7, 2024

    Five autism-associated transcriptional regulators target shared loci proximal to brain-expressed genes.

    Siavash Fazel Darbandi, Joon-Yong An, Kenneth Lim, Nicholas F. Page, Lindsay Liang, David M. Young, Athena R. Ypsilanti, Matthew W. State, Alex S. Nord, Stephan J. Sanders, John L.R. Rubenstein

    link out icon
  • The New England Journal of Medicine  ·  June 5, 2024

    Genome Sequencing for Diagnosing Rare Diseases.

    Monica H Wojcik, Gabrielle Lemire, Eva Berger, Maha S Zaki, Mariel Wissmann, Wathone Win, Susan M White, Ben Weisburd, Dagmar Wieczorek, Leigh B Waddell, Jeffrey M Verboon, Grace E VanNoy, Ana Töpf, Tiong Yang Tan, Steffen Syrbe, Vincent Strehlow, Volker Straub, Sarah L Stenton, Hana Snow, Moriel Singer-Berk, Josh Silver, Shirlee Shril, Eleanor G Seaby, Ronen Schneider, Vijay G Sankaran, Alba Sanchis-Juan, Kathryn A Russell, Karit Reinson, Gianina Ravenscroft, Maximilian Radtke, Denny Popp, Tilman Polster, Konrad Platzer, Eric A Pierce, Emily M Place, Sander Pajusalu, Lynn Pais, Katrin Õunap, Ikeoluwa Osei-Owusu, Henry Opperman, Volkan Okur, Kaisa Teele Oja, Melanie O’Leary, Emily O’Heir, Chantal F Morel, Andreas Merkenschlager, Rhett G Marchant, Brian E Mangilog, Jill A Madden, Daniel MacArthur, Alysia Lovgren, Jordan P Lerner-Ellis, Jasmine Lin, Nigel Laing, Friedhelm Hildebrandt, Julia Hentschel, Emily Groopman, Julia Goodrich, Joseph G Gleeson, Roula Ghaoui, Casie A Genetti, Janina Gburek-Augustat, Hanna T Gazda, Vijay S Ganesh, Mythily Ganapathi, Lyndon Gallacher, Jack M Fu, Emily Evangelista, Eleina England, Sandra Donkervoort, Stephanie DiTroia, Sandra T Cooper, Wendy K Chung, John Christodoulou, Katherine R Chao, Liam D Cato, Kinga M Bujakowska, Samantha J Bryen, Harrison Brand, Carsten G Bönnemann, Alan H Beggs, Samantha M Baxter, Tobias Bartolomaeus, Pankaj B Agrawal, Michael Talkowski, Christina Austin-Tse, Rami Abou Jamra, Heidi L Rehm, Anne O’Donnell-Luria.

    link out icon
  • Nature Reviews Molecular Cell Biology  ·  June 4, 2024

    SenNet recommendations for detecting senescent cells in different tissues.

    Vidyani Suryadevara, Adam D. Hudgins, Adarsh Rajesh, Alberto Pappalardo, Alla Karpova, Amit K. Dey, Ann Hertzel, Anthony Agudelo, Azucena Rocha, Bikem Soygur, Birgit Schilling… Francesco Cambuli, Gagandeep Kaur, George A. Kuchel, Gung Lee, Heike E. Daldrup-Link, Helene Martini, Hemali Phatnani, Iman M. Al-Naggar, Irfan Rahman, Jia Nie, João F. Passos, Jonathan C. Silverstein, Judith Campisi, Julia Wang, Kanako Iwasaki, Karina Barbosa, Kay Metis, Kerem Nernekli, Laura J. Niedernhofer, Li Ding, Lichao Wang, Lisa C. Adams, Liu Ruiyang, Madison L. Doolittle, Marcos G. Teneche, Marissa J. Schafer, Ming Xu, Mohammadjavad Hajipour, Mozhgan Boroumand, Nathan Basisty, Nicholas Sloan, Nikolai Slavov, Olena Kuksenko, Paul Robson, Paul T. Gomez, Periklis Vasilikos, Peter D. Adams, Priscila Carapeto, Quan Zhu, Ramalakshmi Ramasamy, Rolando Perez-Lorenzo, Rong Fan, Runze Dong, Ruth R. Montgomery, Sadiya Shaikh, Sanja Vicković … Nicola Neretti

    link out icon
  • bioRxiv  ·  May 31, 2024  ·  Preprint

    Systems genomics of salinity stress response in rice.

    Sonal Gupta, Simon C. Groen, Maricris L. Zaidem, Andres Godwin C. Sajise, Irina Calic, Mignon A. Natividad, Kenneth L. McNally, Georgina V. Vergara, Rahul Satija, Steven J. Franks, Rakesh K. Singh, Zoé Joly-Lopez, Michael D. Purugganan

    link out icon
  • Genetics in Medicine  ·  May 30, 2024

    Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

    Saurav Guha, Honey V. Reddi, Mahmoud Aarabi, Marina DiStefano, Erin Wakeling, Jeffrey S. Dungan, Anthony R. Gregg on behalf of the ACMG Laboratory Quality Assurance Committee

    link out icon
Decorative image color fade left Decorative image color fade right Decorative image color fade