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Genomics

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  • Biased visibility in HiC datasets marks dynamically regulated condensed and decondensed chromatin states genome-wide.
    Keerthivasan Raanin Chandradoss, Prashanth Kumar Guthikonda, Srinivas Kethavath, Monika Dass, Harpreet Singh, Rakhee Nayak, Sreenivasulu Kurukuti, Kuljeet Singh Sandhu
    bioRxiv 498006; doi: https://doi.org/10.1101/498006 New Results
  • Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes
    Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi, Qingbo Wang, Ryan L Collins, Kristen M Laricchia, Andrea Ganna, Daniel P Birnbaum, Laura D Gauthier, Harrison Brand, Matthew Solomonson, Nicholas A Watts, Daniel Rhodes, Moriel Singer-Berk, Eleanor G Seaby, Jack A Kosmicki, Raymond K Walters, Katherine Tashman, Yossi Farjoun, Eric Banks, Timothy Poterba, Arcturus Wang, Cotton Seed, Nicola Whiffin, Jessica X Chong, Kaitlin E Samocha, Emma Pierce-Hoffman, Zachary Zappala, Anne H O'Donnell-Luria, Eric Vallabh Minikel, Ben Weisburd, Monkol Lek, James S Ware, Christopher Vittal, Irina M Armean, Louis Bergelson, Kristian Cibulskis, Kristen M Connolly, Miguel Covarrubias, Stacey Donnelly, Steven Ferriera, Stacey Gabriel, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Christopher Llanwarne, Ruchi Munshi, Sam Novod, Nikelle Petrillo, David Roazen, Valentin Ruano-Rubio, Andrea Saltzman, Molly Schleicher, Jose Soto, Kathleen Tibbetts, Charlotte Tolonen, Gordon Wade, Michael E Talkowski, The Genome Aggregation Database Consortium, Benjamin M Neale, Mark J Daly, Daniel G MacArthur
    bioRxiv 531210; doi: https://doi.org/10.1101/531210 New Results
  • Genetic variants of calcium and vitamin D metabolism in kidney stone disease
    Sarah Anne Howles, Akira Wiberg, Michelle Goldsworthy, Asha L Bayliss, Emily Grout, Chizu Tanikawa, Yoichiro Kamatani, Chikashi Terao, Atsushi Takahashi, Michiaki Kubo, Koichi Matsuda, Rajesh V Thakker, Benjamin W Turney, Dominic Furniss
    bioRxiv 515882; doi: https://doi.org/10.1101/515882 New Results
  • Differential expression feature extraction (DEFE) and its application in RNA-seq data analysis
    Youlian Pan, Yifeng Li, Ziying Liu, Anuradha Surendra, Lipu Wang, Nora A. Foroud, Ravinder K. Goyal, Therese Ouellet, Pierre R. Fobert
    bioRxiv 511188; doi: https://doi.org/10.1101/511188 New Results
  • Coordinated host-pathogen transcriptional dynamics revealed using sorted subpopulations and single, Candida albicans infected macrophages
    Jose F Munoz, Toni Delorey, Christopher B Ford, Bi Yu Li, Dawn A Thompson, Reeta P Rao, Christina Cuomo
    bioRxiv 350322; doi: https://doi.org/10.1101/350322 New Results
  • A blood-based prognostic biomarker in inflammatory bowel disease
    Daniele Biasci, James C Lee, Nurulamin M Noor, Diana R Pombal, Nina Lewis, Tariq Ahmad, Ailsa Hart, Miles Parkes, Eoin F McKinney, Paul A Lyons, Kenneth GC Smith
    bioRxiv 535153; doi: https://doi.org/10.1101/535153 New Results
  • Population history and gene divergence in Native Mexicans inferred from 76 human exomes
    María C. Ávila-Arcos, Kimberly F. McManus, Karla Sandoval, Juan E. Rodríguez-Rodríguez, Alicia R. Martin, Pierre Luisi, Viridiana Villa-Islas, Rosenda I. Peñaloza-Espinosa, Celeste Eng, Scott Huntsman, Esteban G. Burchard, Christopher R. Gignoux, Carlos D. Bustamante, Andrés Moreno-Estrada
    bioRxiv 534818; doi: https://doi.org/10.1101/534818 New Results
  • Capturing cell type-specific chromatin structural patterns by applying topic modeling to single-cell Hi-C data
    Hyeon-Jin Kim, Galip Gurkan Yardimici, Giancarlo Bonora, Vijay Ramani, Jie Liu, Ruolan Qiu, Choli Lee, Jennifer Hesson, Carol B. Ware, Jay Shendure, Zhijun Duan, William Stafford Noble
    bioRxiv 534800; doi: https://doi.org/10.1101/534800 New Results
  • Characterizing and comparing missense variants in monogenic disease and in cancer
    Yizhou Yin, John Moult
    bioRxiv 534693; doi: https://doi.org/10.1101/534693 New Results
  • Empowering conservation practice with efficient and economical genotyping from poor quality samples
    Meghana Natesh, Ryan Taylor, Nathan Truelove, Elizabeth Hadly, Stephen Palumbi, Dmitri Petrov, Uma Ramakrishnan
    bioRxiv 349472; doi: https://doi.org/10.1101/349472 New Results

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