• Nature Communications  ·  February 13, 2025

    Comprehensive dissection of cis-regulatory elements in a 2.8 Mb topologically associated domain in six human cancers.

    Christina M. Caragine, Victoria T. Le, Meer Mustafa, Bianca Jay Diaz, John A. Morris, Simon Müller, Alejandro Mendez-Mancilla, Evan Geller, Noa Liscovitch-Brauer & Neville E. Sanjana

    link out icon
  • Cell Genomics  ·  February 12, 2025

    Secure and federated quantitative trait loci mapping with privateQTL.

    Yoolim Annie Choi, Yebin Kim, Peihan Miao, Tuuli Lappalainen, Gamze Gürsoy

    link out icon
  • Nature Biotechnology  ·  February 11, 2025

    Precise RNA targeting with CRISPR–Cas13d.

    Sydney K. Hart, Simon Müller, Hans-Hermann Wessels, Alejandro Méndez-Mancilla, Gediminas Drabavicius, Olivia Choi & Neville E. Sanjana

    link out icon
  • Nature Computational Science  ·  February 7, 2025

    A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies.

    Xihao Li, Han Chen, Margaret Sunitha Selvaraj, Eric Van Buren, Hufeng Zhou, Yuxuan Wang, Ryan Sun, Zachary R. McCaw, Zhi Yu, Min-Zhi Jiang, Daniel DiCorpo, Sheila M. Gaynor, Rounak Dey, Donna K. Arnett, Emelia J. Benjamin, Joshua C. Bis, John Blangero, Eric Boerwinkle, Donald W. Bowden, Jennifer A. Brody, Brian E. Cade, April P. Carson, Jenna C. Carlson, Nathalie Chami, Yii-Der Ida Chen, Joanne E. Curran, Paul S. de Vries, Myriam Fornage, Nora Franceschini, Barry I. Freedman, Charles Gu, Nancy L. Heard-Costa, Jiang He, Lifang Hou, Yi-Jen Hung, Marguerite R. Irvin, Robert C. Kaplan, Sharon L. R. Kardia, Tanika N. Kelly, Iain Konigsberg, Charles Kooperberg, Brian G. Kral, Changwei Li, Yun Li, Honghuang Lin, Ching-Ti Liu, Ruth J. F. Loos, Michael C. Mahaney, Lisa W. Martin, Rasika A. Mathias, Braxton D. Mitchell, May E. Montasser, Alanna C. Morrison, Take Naseri, Kari E. North, Nicholette D. Palmer, Patricia A. Peyser, Bruce M. Psaty, Susan Redline, Alexander P. Reiner, Stephen S. Rich, Colleen M. Sitlani, Jennifer A. Smith, Kent D. Taylor, Hemant K. Tiwari, Ramachandran S. Vasan, Satupa’itea Viali, Zhe Wang, Jennifer Wessel, Lisa R. Yanek, Bing Yu, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Josée Dupuis, James B. Meigs, Paul L. Auer, Laura M. Raffield, Alisa K. Manning, Kenneth M. Rice, Jerome I. Rotter, Gina M. Peloso, Pradeep Natarajan, Zilin Li, Zhonghua Liu & Xihong Lin

    link out icon
  • Scientific Reports  ·  February 5, 2025

    Whole genome sequencing in early onset advanced heart failure.

    Erik Linnér, Tomasz Czuba, Olof Gidlöf, Jakob Lundgren, Entela Bollano, Maria Hellberg, Selvi Celik, Neha Pimpalwar, Philipp Rentzsch, Molly Martorella, Anders Gummesson, Olle Melander, Sebastian Albinsson, Göran Dellgren, Jan Borén, Anders Jeppsson, R. Thomas Lumbers, Sonia Shah, Johan Nilsson, Pradeep Natarajan, Tuuli Lappalainen, Malin Levin, Hans Ehrencrona & J. Gustav Smith

    link out icon
  • Nature Communications  ·  February 4, 2025

    Phospho-seq: integrated, multi-modal profiling of intracellular protein dynamics in single cells.

    John D. Blair, Austin Hartman, Fides Zenk, Philipp Wahle, Giovanna Brancati, Carol Dalgarno, Barbara Treutlein & Rahul Satija

    link out icon
  • Cancer Research  ·  February 1, 2025

    Kinome-Focused CRISPR-Cas9 Screens in African Ancestry Patient-Derived Breast Cancer Organoids Identify Essential Kinases and Synergy of EGFR and FGFR1 Inhibition.

    Madorsky Rowdo FP, Martini R, Ackermann SE, Tang CP, Tranquille M, Irizarry A, Us I, Alawa O, Moyer JE, Sigouros M, Nguyen J, Al Assaad M, Cheng E, Ginter PS, Manohar J, Stonaker B, Boateng R, Oppong JK, Adjei EK, Awuah B, Kyei I, Aitpillah FS, Adinku MO, Ankomah K, Osei-Bonsu EB, Gyan KK, Hoda S, Newman L, Mosquera JM, Sboner A, Elemento O, Dow LE, Davis MB, Martin ML.

    link out icon
  • Thyroid  ·  January 27, 2025

    Strength of Genetic Associations with Thyrotropin Values Differs Between Populations with Similarity to African and European Reference Populations.

    Alisha N. Wade, Lindsay Guare, Mahtaab Hayat, Peter Straub, Ziyue Gao, Marco Medici, Alexander Teumer, Lea K. Davis, Michèle Ramsay, Marylyn D.

    link out icon
  • Molecular Oncology  ·  January 20, 2025

    Whole-genome sequencing of cell-free DNA reveals DNA of tumor origin in plasma from patients with colorectal adenomas.

    Amanda Frydendahl, Adam J. Widman, Nadia Øgaard, Anushri Arora, Daniel Halmos, Jesper Nors, Johanne Ahrenfeldt, Tenna V. Henriksen, Christina Demuth, Line Raaby, Mads H. Rasmussen, Christina Therkildsen, Dan A. Landau, Claus L. Andersen

    link out icon
  • medRxiv  ·  January 13, 2025  ·  Preprint

    Regulation of protein abundance in normal human tissues.

    Huaying Fang, Lihua Jiang, Felipe da Veiga Leprevost, Ruiqi Jian, Joanne Chan, Dafni Glinos, Tuuli Lappalainen, Alexey I. Nesvizhskii, Alexander P. Reiner, GTEx Consortium, Michael Snyder, Hua Tang

    link out icon
  • bioRxiv  ·  January 11, 2025  ·  Preprint

    Enhancer Dynamics and Spatial Organization Drive Anatomically Restricted Cellular States in the Human Spinal Cord.

    Elena K. Kandror, Anqi Wang, Mathieu Carriere, Alexis Peterson, Will Liao, Andreas Tjärnberg, Jun Hou Fung, Krishnaa T. Mahbubani, Jackson Loper, William Pangburn, Yuchen Xu, Kourosh Saeb-Parsy, Raul Rabadan, Tom Maniatis, Abbas H. Rizvi

    link out icon
  • Alzheimer's & Dementia  ·  January 9, 2025

    Proteomic Analysis Resolves Distinct Molecular Signatures in Alzheimer’s Disease Brain Across Diverse Racial Groups.

    Fatemeh Seifar, Edward J Fox, Anantharaman Shantaraman, Yue Liu, Erica S. Modeste, Duc M Duong, Luming Yin, Marla Gearing, James J. Lah, Joseph S. Reddy, Mariet Allen, Zachary Quicksall, Laura M Heath, Jo Scanlan, Erming Wang, Minghui Wang, Abby Vander Linden, William L. Poehlman, Xianfeng Chen, Saurabh Baheti, Charlotte C.G. Ho, Thuy Nguyen, Geovanna Yepez-Sisalema, Adriana O Mitchell, Stephanie R Oatman, Xue Wang, Minerva M. Carrasquillo, Alexi Runnels, Thomas G. Beach, Todd Golde, Lisa L. Barnes, Vahram Haroutunian, Bin Zhang, Philip L. De Jager, David A. Bennett, Anna Greenwood, Nilüfer Ertekin-Taner, Allan I. Levey, Aliza P. Wingo, Thomas S. Wingo, Nicholas T Seyfried, Accelerating Medicine Partnership for Alzheimer’s (AMP-AD) Diversity Initiative Disease

    link out icon
  • Alzheimer's and Dementia  ·  January 9, 2025

    Beyond GWAS: Investigating Structural Variants and Their Segregation in Familial Alzheimer’s Disease.

    Tamil Iniyan Gunasekaran, Dolly Reyes-Dumeyer, André Corvelo, Wayne E. Clarke, Uday S. Evani, Marta S. Byrska-Bishop, Anna O. Basile, Alexi Runnels, Rajeeva O. Musunuri, Giuseppe Narzisi, Kelley M. Faber, Alison M. Goate, Brad F. Boeve, Carlos Cruchaga, Margaret A. Pericak-Vance, Jonathan L. Haines, Roger N Rosenberg, Debby W Tsuang, Diones Rivera Mejia, Martin Medrano, Rafael A. Lantigua, Robert Sweet, David A. Bennett, Robert S. Wilson, Tatiana M. Foroud, Clifton L. Dalgard, Richard Mayeux, Michael Zody, Badri N Vardarajan

    link out icon
  • Nature Communications  ·  January 8, 2025

    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, Mohammed Faizal Eeman Mootor, Paul C. Boutros, Lisa Murray, Kishwar Shafin, Andrew Carroll, Fritz J. Sedlazeck, Melissa Wilson & Justin M. Zook

    link out icon
  • 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

    link out icon
  • 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

    link out icon
  • 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

    link out icon
  • 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

    link out icon
  • 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

    link out icon
  • 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

    link out icon
  • 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

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