Genomics

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

Genomics

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