• Am J Respir Crit Care Med  ·  May 27, 2020

    Whole Genome Sequencing Identifies Novel Functional Loci Associated with Lung Function in Puerto Rican Youth.

    Lee EY, Mak AC, Hu D, Sajuthi S, White MJ, Keys KL, Eckalbar W, Bonser L, Huntsman S, Urbanek C, Eng C, Jain D, Abecasis G, Kang HM, Germer S, Zody MC, Nickerson DA, Erle D, Ziv E, Rodriguez-Santana J, Seibold MA, Burchard EG.

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  • Nature  ·  May 27, 2020

    Mapping and characterization of structural variation in 17,795 human genomes.

    Haley J. Abel, David E. Larson, Allison A. Regier, Colby Chiang, Indraniel Das, Krishna L. Kanchi, Ryan M. Layer, Benjamin M. Neale, William J. Salerno, Catherine Reeves, Steven Buyske, NHGRI Centers for Common Disease Genomics, Tara C. Matise, Donna M. Muzny, Michael C. Zody, Eric S. Lander, Susan K. Dutcher, Nathan O. Stitziel & Ira M. Hall

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  • The Lancet Psychiatry  ·  May 20, 2020

    Mental Health Delivery and Neurogenetics Discovery in Africa.

    Dan J Stein , Thomas Lehner, Zane Lombard, Beverly Pringle, Geetha Senthil, Monica Uddin

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  • Genome Biology  ·  April 28, 2020

    ExpansionHunter Denovo: A computational method for locating known and novel repeat expansions in short-read sequencing data.

    Egor Dolzhenko, Mark F Bennett, Phillip A Richmond, Brett Trost, Sai Chen, Joke JFA van Vugt, Charlotte Nguyen, Giuseppe Narzisi, Vladimir G Gainullin, Andrew Gross, Bryan Lajoie, Ryan J Taft, Wyeth W Wasserman, Stephen W Scherer, Jan H Veldink, David R Bentley, Ryan KC Yuen, Melanie Bahlo, Michael A Eberle

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  • Genetics  ·  April 23, 2020

    Novel KITLG/SCF regulatory variants are associated with lung function in African American children with asthma.

    Angel Mak, Satria Sajuthi, Jaehyun Joo, Shujie Xiao, Patrick Sleiman, Marquitta J White, Eunice Y Lee, Benjamin Saef, Donglei Hu, Hongsheng Gui, Kevin L Keys, Fred Lurmann, Deepti Jain, Goncalo Abecasis, Hyun Min Kang, Deborah A Nickerson, Soren Germer, Michael C Zody, Lara Winterkorn, Catherine Reeves, Scott Huntsman, Celeste Eng, Sandra Salazar, Sam S Oh, Frank Gilliland, Zhanghua Chen, Rajesh Kumar, Fernando D Martinez, Ann Chen Wu, Elad Ziv, Hakon Hakonarson, Blanca E Himes, L Keoki Williams, Max A Seibold, Esteban G Burchard

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  • Nature Communications  ·  April 20, 2020

    High throughput pMHC-I tetramer library production using chaperone-mediated peptide exchange.

    Sarah A. Overall, Jugmohit S. Toor, Stephanie Hao, Mark Yarmarkovich, Sara M. O’Rourke, Giora I. Morozov, Son Nguyen, Alberto Sada Japp, Nicolas Gonzalez, Danai Moschidi, Michael R. Betts, John M. Maris, Peter Smibert & Nikolaos G. Sgourakis

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  • Neuron  ·  March 27, 2020

    The Loss of TBK1 Kinase Activity in Motor Neurons or in All Cell Types Differentially Impacts ALS Disease Progression in SOD1 Mice.

    Valeria Gerbino, Esther Kaunga, Junqiang Ye, Daniele Canzio, Sean O’Keeffe, Noam D. Rudnick Paolo Guarnieri, Cathleen M. Lutz, Tom Maniatis

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  • Nature Genetics  ·  March 23, 2020

    DNA methylation disruption reshapes the hematopoietic differentiation landscape.

    Izzo F, Lee SC, Poran A, Chaligne R, Gaiti F, Gross B, Murali RR, Deochand SD, Ang C, Jones PW, Nam AS, Kim KT, Kothen-Hill S, Schulman RC, Ki M, Lhoumaud P, Skok JA, Viny AD, Levine RL, Kenigsberg E, Abdel-Wahab O, Landau DA.

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  • bioRxiv  ·  February 24, 2020  ·  Preprint

    An autoimmune disease risk variant has a trans master regulatory effect mediated by IRF1 under immune stimulation.

    Margot K Brandt, Sarah Kim-Hellmuth, Marcello Ziosi, Alper Gokden, Aaron Wolman, Nora Lam, Yocelyn Recinos, Veit K Hornung, Johannes Schumacher, Tuuli Lappalainen

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  • Cell Reports  ·  March 3, 2020

    High-Throughput Screens of PAM-Flexible Cas9 Variants for Gene Knockout and Transcriptional Modulation.

    Legut M, Daniloski Z, Xue X, McKenzie D, Guo X, Wessels HH, Sanjana NE.

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  • bioRxiv  ·  February 11, 2020  ·  Preprint

    Recent Ultra-rare Inherited Mutations Identify Novel Autism Candidate Risk Genes

    Amy B Wilfert, Tychele N Turner, Shwetha C Murali, PingHsun Hsieh, Arvis Sulovari, Tianyun Wang, Bradley P Coe, Hui Guo, Kendra Hoekzema, Trygve E Bakken, Lara H Winterkorn, Uday S Evani, Marta Byrska-Bishop, Rachel K Earl, Raphael A Bernier, The SPARK Consortium, Michael C Zody, Evan E Eichler

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  • Nature  ·  February 6, 2020

    The evolutionary history of 2,658 cancers.

    PCAWG Evolution and Heterogeneity Working Group, PCAWG network (includes Imielinski M)

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  • Nature  ·  February 5, 2020

    Pan-cancer analysis of whole genomes.

    The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium (includes Marcin Imielinski & Xiaotong Yao)

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  • Genome Biology  ·  December 23, 2019

    Normalization and variance stabilization of single-cell RNA-seq data using regularized negative binomial regression.

    Hafemeister C, Satija R.

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  • Science Translational Medicine  ·  December 18, 2019

    Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology.

    Irit Reichenstein,*, Chen Eitan, Sandra Diaz-Garcia, Guy Haim, Iddo Magen, Aviad Siany, Mariah L. Hoye, Natali Rivkin, Tsviya Olender, Beata Toth, Revital Ravid, Amitai D. Mandelbaum, Eran Yanowski, Jing Liang, Jeffrey K. Rymer, Rivka Levy, Gilad Beck, Elena Ainbinder, Sali M. K. Farhan, Kimberly A. Lennox, Nicole M. Bode, Mark A. Behlke, Thomas Möller, Smita Saxena, Cristiane A. M. Moreno, Giancarlo Costaguta, Kristel R. van Eijk, Hemali Phatnani, Ammar Al-Chalabi, A. Nazli Başak, Leonard H. van den Berg, Orla Hardiman, John E. Landers, Jesus S. Mora, Karen E. Morrison, Pamela J. Shaw, Jan H. Veldink, Samuel L. Pfaff, Ofer Yizhar, Christina Gross, Robert H. Brown Jr., John M. Ravits, Matthew B. Harms, Timothy M. Miller and Eran Hornstein

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  • Scientific Reports  ·  December 13, 2019

    Deep sequencing of 3 cancer cell lines on 2 sequencing platforms

    Kanika Arora, Minita Shah, Molly Johnson, Rashesh Sanghvi, Jennifer Shelton, Kshithija Nagulapalli, Dayna M Oschwald, Michael C Zody, Soren Germer, Vaidehi Jobanputra, Jade Carter, Nicolas Robine.

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  • PLoS Genet  ·  December 13, 2019

    Leveraging allelic imbalance to refine fine-mapping for eQTL studies.

    Zou J, Hormozdiari F, Jew B, Castel SE, Lappalainen T, Ernst J, Sul JH, Eskin E.

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  • Cell  ·  December 12, 2019

    Toward a Common Coordinate Framework for the Human Body.

    Jennifer E. Rood, Tim Stuart, Shila Ghazanfar, Tommaso Biancalani, Eyal Fisher, Andrew Butler, Anna Hupalowska, Leslie Gaffney, William Mauck, Gökçen Eraslan, John C. Marioni, Aviv Regev, Rahul Satija.

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  • Nature Neuroscience  ·  November 25, 2019

    Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.

    Farhan SMK, Howrigan DP, Abbott LE, Klim JR, Topp SD, Byrnes AE, Churchhouse C, Phatnani H, Smith BN, Rampersaud E, Wu G, Wuu J, Shatunov A, Iacoangeli A, Al Khleifat A, Mordes DA, Ghosh S; ALSGENS Consortium; FALS Consortium; Project MinE Consortium; CReATe Consortium, Eggan K, Rademakers R, McCauley JL, Schüle R, Züchner S, Benatar M, Taylor JP, Nalls M, Gotkine M, Shaw PJ, Morrison KE, Al-Chalabi A, Traynor B, Shaw CE, Goldstein DB, Harms MB, Daly MJ, Neale BM.

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