• American Journal of Human Genetics  ·  January 25, 2021

    De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.

    Weng PL, Majmundar AJ, Khan K, Lim TY, Shril S, Jin G, Musgrove J, Wang M, Ahram DF, Aggarwal VS, Bier LE, Heinzen EL, Onuchic-Whitford AC, Mann N, Buerger F, Schneider R, Deutsch K, Kitzler TM, Klämbt V, Kolb A, Mao Y, Moufawad El Achkar C, Mitrotti A, Martino J, Beck BB, Altmüller J, Benz MR, Yano S, Mikati MA, Gunduz T, Cope H, Shashi V; Undiagnosed Diseases Network, Trachtman H, Bodria M, Caridi G, Pisani I, Fiaccadori E, AbuMaziad AS, Martinez-Agosto JA, Yadin O, Zuckerman J, Kim A; UCLA Clinical Genomics Center, John-Kroegel U, Tyndall AV, Parboosingh JS, Innes AM, Bierzynska A, Koziell AB, Muorah M, Saleem MA, Hoefele J, Riedhammer KM, Gharavi AG, Jobanputra V, Pierce-Hoffman E, Seaby EG, O’Donnell-Luria A, Rehm HL, Mane S, D’Agati VD, Pollak MR, Ghiggeri GM, Lifton RP, Goldstein DB, Davis EE, Hildebrandt F, Sanna-Cherchi S

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  • bioRxiv  ·  January 19, 2021  ·  Preprint

    Accounting for fragments of unexpected origin improves transcript quantification in RNA-seq simulations focused on increased realism.

    Avi Srivastava, Mohsen Zakeri, Hirak Sarkar, Charlotte Soneson, Carl Kingsford, Rob Patro

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  • Trials  ·  January 14, 2021

    The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children.

    Odgis JA, Gallagher KM, Suckiel SA, Donohue KE, Ramos MA, Kelly NR, Bertier G, Blackburn C, Brown K, Fielding L, Lopez J, Aguiniga KL, Maria E, Rodriguez JE, Sebastin M, Teitelman N, Watnick D, Yelton NM, Abhyankar A, Abul-Husn NS, Baum A, Bauman LJ, Beal JC, Bloom T, Cunningham-Rundles C, Diaz GA, Dolan S, Ferket BS, Jobanputra V, Kovatch P, McDonald TV, McGoldrick PE, Rhodes R, Rinke ML, Robinson M, Rubinstein A, Shulman LH, Stolte C, Wolf SM, Yozawitz E, Zinberg RE, Greally JM, Gelb BD, Horowitz CR, Wasserstein MP, Kenny EE.

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  • bioRxiv  ·  January 11, 2021  ·  Preprint

    The landscape of human brain immune response in patients with severe COVID-19.

    John F Fullard, Hao chih Lee, Georgios Voloudakis, Shengbao Suo, Zhiping Shao, Cyril Peter, Behnam Javidfar, Wen Zhang, Shan Jiang, André Corvelo, Emma Woodoff-Leith, Dushyant P Purohit, Gabriel E Hoffman, Schahram Akbarian, Mary Fowkes, John Crary, Guo-Cheng Yuan, Panos Roussos

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  • Nature Structural & Molecular Biology  ·  January 4, 2021

    Structural and functional characterization of the Spo11 core complex.

    Corentin Claeys Bouuaert, Sam E. Tischfield, Stephen Pu, Eleni P. Mimitou, Ernesto Arias-Palomo, James M. Berger & Scott Keeney

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  • Nature Methods  ·  January 4, 2021

    Quantum computing at the frontiers of biological sciences.

    Prashant S. Emani, Jonathan Warrell, Alan Anticevic, Stefan Bekiranov, Michael Gandal, Michael J. McConnell, Guillermo Sapiro, Alán Aspuru-Guzik, Justin T. Baker, Matteo Bastiani, John D. Murray, Stamatios N. Sotiropoulos, Jacob Taylor, Geetha Senthil, Thomas Lehner, Mark B. Gerstein & Aram W. Harrow

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  • J Am Acad Child Adolesc Psychiatry  ·  December 28, 2020

    Genetic Studies of Mental Illness: Are Children Being Left Behind?

    Posner J, Biezonski D, Pieper S, Duarte CS.

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  • bioRxiv  ·  December 24, 2020  ·  Preprint

    Single cell analysis of blood mononuclear cells stimulated through CD3 and CD28 shows collateral activation of B and NK cells and demise of monocytes.

    Nathan Lawlor, Djamel Nehar-Belaid, Jessica D.S. Grassmann, Marlon Stoeckius, Peter Smibert, Michael L. Stitzel, Virginia Pascual, Jacques Banchereau, Adam Williams, Duygu Ucar

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  • JAMA Surg  ·  December 23, 2020

    A Genomic-Pathologic Annotated Risk Model to Predict Recurrence in Early-Stage Lung Adenocarcinoma.

    Jones GD, Brandt WS, Shen R, Sanchez-Vega F, Tan KS, Martin A, Zhou J, Berger M, Solit DB, Schultz N, Rizvi H, Liu Y, Adamski A, Chaft JE, Riely GJ, Rocco G, Bott MJ, Molena D, Ladanyi M, Travis WD, Rekhtman N, Park BJ, Adusumilli PS, Lyden D, Imielinski M, Mayo MW, Li BT, Jones DR.

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  • bioRxiv  ·  December 14, 2020  ·  Preprint

    The SEQC2 Epigenomics Quality Control (EpiQC) Study: Comprehensive Characterization of Epigenetic Methods, Reproducibility, and Quantification.

    Jonathan Foox, Jessica Nordlund, Claudia Lalancette, Ting Gong, Michelle Lacey, Samantha Lent, Bradley W Langhorst, V K Chaithanya Ponnaluri, Louise Williams, Karthik Padmamabhan, Raymond G Cavalcante, Anders Lundmark, Daniel Butler, Justin M Gurvitch, John M Greally, Masako Suzuki, Mark Menor, Masaki Nasu, Alicia Alonso, Caroline Sheridan, Andreas Scherer, Stephen Bruinsma, Gosia Golda, Agata Muszynska, Paweł Piotr Łabaj, Matthew A Campbell, Frank Wos, Amanda Raine, Ulrika Liljedahl, Tomas Axelsson, Charles Wang, Zhong Chen, Zhaowei Yang, Jing Li, Xiaopeng Yang, Hongwei Wang, Ari Melnick, Shang Guo, Alexander Blume, Vedran Franke, Inmaculada Ibanez de Caceres, Carlos Rodriguez-Antolin, Rocio Rosas, Justin Wade Davis, Jennifer Ishii, Dalila B Megherbi, Wenming Xiao, Will Liao, Joshua Xu, Huixiao Hong, Baitang Ning, Weida Tong, Altuna Akalin, Yunliang Wang, Youping Deng, Christopher Mason

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  • Nature  ·  December 9, 2020

    Histone H1 loss drives lymphoma by disrupting 3D chromatin architecture.

    Nevin Yusufova, Andreas Kloetgen, Matt Teater, Adewola Osunsade, Jeannie M. Camarillo, Christopher R. Chin, Ashley S. Doane, Bryan J. Venters, Stephanie Portillo-Ledesma, Joseph Conway, Jude M. Phillip, Olivier Elemento, David W. Scott, Wendy Béguelin, Jonathan D. Licht, Neil L. Kelleher, Louis M. Staudt, Arthur I. Skoultchi, Michael-Christopher Keogh, Effie Apostolou, Christopher E. Mason, Marcin Imielinski, Tamar Schlick, Yael David, Aristotelis Tsirigos, C. David Allis, Alexey A. Soshnev, Ethel Cesarman & Ari M. Melnick.

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  • Neuron  ·  November 26, 2020

    Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

    Ramita Dewan, Ruth Chia, Jinhui Ding, Richard A Hickman, Thor D Stein, Yevgeniya Abramzon, Sarah Ahmed, Marya S Sabir, Makayla K Portley, Arianna Tucci, Kristina Ibáñez, F N U Shankaracharya, Pamela Keagle, Giacomina Rossi, Paola Caroppo, Fabrizio Tagliavini, Maria L Waldo, Per M Johansson, Christer F Nilsson, American Genome Center (TAGC); FALS Sequencing Consortium; Genomics England Research Consortium; International ALS/FTD Genomics Consortium (iAFGC); International FTD Genetics Consortium (IFGC); International LBD Genomics Consortium (iLBDGC); NYGC ALS Consortium; PROSPECT Consortium; James B Rowe, Luisa Benussi , Giuliano Binetti, Roberta Ghidoni, Edwin Jabbari, Coralie Viollet, Jonathan D Glass 19, Andrew B Singleton, Vincenzo Silani, Owen A Ross, Mina Ryten, Ali Torkamani, Toshiko Tanaka, Luigi Ferrucci, Susan M Resnick, Stuart Pickering-Brown, Christopher B Brady, Neil Kowal, John A Hardy, Vivianna Van Deerlin, Jean Paul Vonsattel, Matthew B Harms, Huw R Morris, Raffaele Ferrari, John E Landers, Adriano Chiò, J Raphael Gibbs, Clifton L Dalgard, Sonja W Scholz, Bryan J Traynor

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  • PLoS One  ·  November 25, 2020

    Asthma and its relationship to mitochondrial copy number: Results from the Asthma Translational Genomics Collaborative (ATGC) of the Trans-Omics for Precision Medicine (TOPMed) program.

    Cocco MP, White E, Xiao S, Hu D, Mak A, Sleiman P, Yang M, Bobbitt KR, Gui H, Levin AM, Hochstadt S, Whitehouse K, Rynkowski D, Barczak AJ, Abecasis G, Blackwell TW, Kang HM, Nickerson DA, Germer S, Ding J, Lanfear DE, Gilliland F, Gauderman WJ, Kumar R, Erle DJ, Martinez F, Hakonarson H, Burchard EG, Williams LK.

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  • bioRxiv  ·  November 23, 2020

    The BTB transcription factors ZBTB11 and ZFP131 maintain pluripotency by pausing POL II at pro-differentiation genes.

    Görkem Garipler, Congyi Lu, Alexis Morrissey, Lorena S. Lopez-Zepeda, Simon E. Vidal, Begüm Aydin, Matthias Stadtfeld, Uwe Ohler, Shaun Mahony, Neville E. Sanjana, Esteban O. Mazzoni

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  • Molecular Cell  ·  November 19, 2020

    Impact of Lineage Plasticity to and from a Neuroendocrine Phenotype on Progression and Response in Prostate and Lung Cancers.

    Mark A Rubin, Robert G. Bristow, Phillip D. Thienger, Caroline Dive, Marcin Imielinski

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  • bioRxiv  ·  November 12, 2020  ·  Preprint

    Pangenome-based genome inference.

    Jana Ebler, Wayne E. Clarke, Tobias Rausch, Peter A. Audano, Torsten Houwaart, Jan Korbel, Evan E. Eichler, Michael C. Zody, Alexander T. Dilthey, Tobias Marschall
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