• 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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  • Nature  ·  November 11, 2020

    Dense sampling of bird diversity increases power of comparative genomics.

    Shaohong Feng, Josefin Stiller, Yuan Deng, Joel Armstrong, Qi Fang, Andrew Hart Reeve, Duo Xie, Guangji Chen, Chunxue Guo, Brant C. Faircloth, Bent Petersen, Zongji Wang, Qi Zhou, Mark Diekhans, Wanjun Chen, Sergio Andreu-Sánchez, Ashot Margaryan, Jason Travis Howard, Carole Parent, George Pacheco, Mikkel-Holger S. Sinding, Lara Puetz, Emily Cavill, Ângela M. Ribeiro, Leopold Eckhart, Jon Fjeldså, Peter A. Hosner, Robb T. Brumfield, Les Christidis, Mads F. Bertelsen, Thomas Sicheritz-Ponten, Dieter Thomas Tietze, Bruce C. Robertson, Gang Song, Gerald Borgia, Santiago Claramunt, Irby J. Lovette, Saul J. Cowen, Peter Njoroge, John Philip Dumbacher, Oliver A. Ryder, Jérôme Fuchs, Michael Bunce, David W. Burt, Joel Cracraft, Guanliang Meng, Shannon J. Hackett, Peter G. Ryan, Knud Andreas Jønsson, Ian G. Jamieson, Rute R. da Fonseca, Edward L. Braun, Peter Houde, Siavash Mirarab, Alexander Suh, Bengt Hansson, Suvi Ponnikas, Hanna Sigeman, Martin Stervander, Paul B. Frandsen, Henriette van der Zwan, Rencia van der Sluis, Carina Visser, Christopher N. Balakrishnan, Andrew G. Clark, John W. Fitzpatrick, Reed Bowman, Nancy Chen, Alison Cloutier, Timothy B. Sackton, Scott V. Edwards, Dustin J. Foote, Subir B. Shakya, Frederick H. Sheldon, Alain Vignal, André E. R. Soares, Beth Shapiro, Jacob González-Solís, Joan Ferrer-Obiol, Julio Rozas, Marta Riutort, Anna Tigano, Vicki Friesen, Love Dalén, Araxi O. Urrutia, Tamás Székely, Yang Liu, Michael G. Campana, André Corvelo, Robert C. Fleischer, Kim M. Rutherford, Neil J. Gemmell, Nicolas Dussex, Henrik Mouritsen, Nadine Thiele, Kira Delmore, Miriam Liedvogel, Andre Franke, Marc P. Hoeppner, Oliver Krone, Adam M. Fudickar, Borja Milá, Ellen D. Ketterson, Andrew Eric Fidler, Guillermo Friis, Ángela M. Parody-Merino, Phil F. Battley, Murray P. Cox, Nicholas Costa Barroso Lima, Francisco Prosdocimi, Thomas Lee Parchman, Barney A. Schlinger, Bette A. Loiselle, John G. Blake, Haw Chuan Lim, Lainy B. Day, Matthew J. Fuxjager, Maude W. Baldwin, Michael J. Braun, Morgan Wirthlin, Rebecca B. Dikow, T. Brandt Ryder, Glauco Camenisch, Lukas F. Keller, Jeffrey M. DaCosta, Mark E. Hauber, Matthew I. M. Louder, Christopher C. Witt, Jimmy A. McGuire, Joann Mudge, Libby C. Megna, Matthew D. Carling, Biao Wang, Scott A. Taylor, Glaucia Del-Rio, Alexandre Aleixo, Ana Tereza Ribeiro Vasconcelos, Claudio V. Mello, Jason T. Weir, David Haussler, Qiye Li, Huanming Yang, Jian Wang, Fumin Lei, Carsten Rahbek, M. Thomas P. Gilbert, Gary R. Graves, Erich D. Jarvis, Benedict Paten & Guojie Zhang

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  • Genome Biology  ·  November 10, 2020

    Massive gene presence-absence variation shapes an open pan-genome in the Mediterranean mussel.

    Marco Gerdol, Rebeca Moreira, Fernando Cruz, Jessica Gómez-Garrido, Anna Vlasova, Umberto Rosani, Paola Venier, Miguel A. Naranjo-Ortiz, Maria Murgarella, Samuele Greco, Pablo Balseiro, André Corvelo, Leonor Frias, Marta Gut, Toni Gabaldón, Alberto Pallavicini, Carlos Canchaya, Beatriz Novoa, Tyler S. Alioto, David Posada and Antonio Figueras

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  • Current Genetic Medicine Reports  ·  November 7, 2020

    Genetics of Amyotrophic Lateral Sclerosis.

    Jenna M. Gregory, Delphine Fagegaltier, Hemali Phatnani & Matthew B. Harms

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  • Nature Communications  ·  October 30, 2020

    Optimized design of single-cell RNA sequencing experiments for cell-type-specific eQTL analysis.

    Mandric I, Schwarz T, Majumdar A, Hou K, Briscoe L, Perez R, Subramaniam M, Hafemeister C, Satija R, Ye CJ, Pasaniuc B, Halperin E.

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  • American Journal of Human Genetics  ·  October 26, 2020

    Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.

    Laura M Amendola, Kathleen Muenzen, Leslie G Biesecker, Kevin M Bowling, Greg M Cooper, Michael O Dorschner, Catherine Driscoll, Ann Katherine M Foreman, Katie Golden-Grant, John M Greally, Lucia Hindorff, Dona Kanavy , Vaidehi Jobanputra, Jennifer J Johnston, Eimear E Kenny, Shannon McNulty, Priyanka Murali, Jeffrey Ou, Bradford C Powell, Heidi L Rehm, Bradley Rolf, Tamara S Roman, Jessica Van Ziffle, Saurav Guha, Avinash Abhyankar, David Crosslin, Eric Venner, Bo Yuan, Hana Zouk, CSER Sequencing and Diagnostic Yield working group; Gail P Jarvik

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  • Cell  ·  October 24, 2020

    Identification of required host factors for SARS-CoV-2 infection in human cells.

    Zharko Daniloski, Tristan X. Jordan, Hans-Hermann Wessels, Daisy A. Hoagland, Silva Kasela, Mateusz Legut, Silas Maniatis, Eleni P. Mimitou, Lu Lu, Evan Geller, Oded Danziger, Brad R. Rosenberg, Hemali Phatnani, Peter Smibert, Tuuli Lappalainen, Benjamin R. tenOever, Neville E. Sanjana

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  • The Journal of Molecular Diagnostics  ·  October 23, 2020

    Detection of Copy Number Variants by Short Multiply Aggregated Sequence Homologies.

    Vaidehi Jobanputra, Peter Andrews, Vanessa Felice, Avinash Abhyankar, Lukasz Kozon, Dino Robinson, Ferrah London, Inessa Hakker, Kazimierz Wrzeszczynski, Michael Ronemus

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  • Nature  ·  October 23, 2020

    Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.

    Christian R. Marshall, Shimul Chowdhury, Ryan J. Taft, Mathew S. Lebo, Jillian G. Buchan, Steven M. Harrison, Ross Rowsey, Eric W. Klee, Pengfei Liu, Elizabeth A. Worthey, Vaidehi Jobanputra, David Dimmock, Hutton M. Kearney, David Bick, Shashikant Kulkarni, Stacie L. Taylor, John W. Belmont, Dimitri J. Stavropoulos, Niall J. Lennon & Medical Genome Initiative

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