• 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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  • Genome Biology  ·  November 21, 2019

    EpiMethylTag simultaneously detects ATAC-seq or ChIP-seq signals with DNA methylation.

    Priscillia Lhoumaud, Gunjan Sethia, Izzo F, Sana Badri, MacIntosh Cornwell, Kim K-T, Landau D, Jane Skok
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  • PNAS  ·  November 20, 2019

    Effects of ALS-associated TANK binding kinase 1 mutations on protein–protein interactions and kinase activity

    Junqiang Ye, Jonah Cheung, Valeria Gerbino, Göran Ahlsén, Christina Zimanyi, David Hirsh, and Tom Maniatis

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  • bioRxiv  ·  November 18, 2019  ·  Preprint

    Genome-wide profiling of druggable active tumor defense mechanisms to enhance cancer immunotherapy

    Rigel J Kishton, Shashank J Patel, Suman K Vodnala, Amy K Decker, Yogin Patel, Madhusudhanan Sukumar, Tori N Yamamoto, Zhiya Yu, Michelle Ji, Amanda N Henning, Devikala Gurusamy, Douglas C Palmer, Winifred Lo, Anna Pasetto, Parisa Malekzadeh, Drew C Deniger, Kris C Wood, Neville E. Sanjana, Nicholas P Restifo

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  • Journal of Heredity  ·  November 14, 2019

    Adaptive Radiation Genomics of Two Ecologically Divergent Hawai‘ian Honeycreepers: The ‘akiapōlā‘au and the Hawai‘i ‘amakihi.

    Michael G Campana, André Corvelo, Jennifer Shelton, Taylor E Callicrate, Karen L Bunting, Bridget Riley-Gillis, Frank Wos, Justin DeGrazia, Erich D Jarvis, Robert C Fleischer

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  • Molecular Biology and Evolution  ·  November 8, 2019

    Phylogenomics identifies an ancestral burst of gene duplications predating the diversification of aphidomorpha.

    Irene Julca, Marina Marcet-Houben, Fernando Cruz, Carlos Vargas-Chavez, J Spencer Johnston, Jèssica Gómez-Garrido, Leonor Frias, André Corvelo, Damian Loska, Francisco Cámara, Marta Gut, Tyler Alioto, Amparo Latorre, Toni Gabaldón

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  • bioRxiv  ·  November 7, 2019  ·  Preprint

    Nanopore sequencing of DNA concatemers reveals higher-order features of chromatin structure

    Netha Ulahannan, Matthew Pendleton, Aditya S Deshpande, Stefan Schwenk, Julie M Behr, Xiaoguang Dai, Carly Tyer, Priyesh Rughani, Sarah Kudman, Emily Adney, Huasong Tian, David Wilkes, Juan Miguel Mosquera, David Stoddart, Daniel J Turner, Sissel Juul, Eoghan Harrington, Marcin Imielinski

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  • Genome Biology  ·  November 4, 2019

    Genetic regulation of gene expression and splicing during a 10-year period of human aging.

    Balliu B, Durrant M, Goede O, Abell N, Li X, Liu B, Gloudemans MJ, Cook NL, Smith KS, Knowles DA, Pala M, Cucca F, Schlessinger D, Jaiswal S, Sabatti C, Lind L, Ingelsson E, Montgomery SB.

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  • Pigment Cell & Melanoma Research  ·  November 2, 2019

    Sequencing two Tyr::CreERT2 transgenic mouse lines.

    Aktary Z, Corvelo A, Estrin C, Larue L.

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  • Stem Cell Research  ·  November 1, 2019

    Generation of a knock-in MAP2-tdTomato reporter human embryonic stem cell line with inducible expression of NEUROG2/1 (NYGCe001-A).

    Lu C, Sanjana NE.

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  • Cell Reports  ·  October 29, 2019

    Postmortem Cortex Samples Identify Distinct Molecular Subtypes of ALS: Retrotransposon Activation, Oxidative Stress, and Activated Glia

    Oliver H. Tam, Nikolay V. Rozhkov, Regina Shaw, Duyang Kim, Isabel Hubbard, Samantha Fennessey, Nadia Propp, The NYGC ALS Consortium, Delphine Fagegaltier, Brent T. Harris, Lyle W. Ostrow, Hemali Phatnani, John Ravits, Josh Dubnau, and Molly Gale Hammell

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  • Cell Systems  ·  October 23, 2019

    Genotype-Fitness Maps of EGFR-Mutant Lung Adenocarcinoma Chart the Evolutionary Landscape of Resistance for Combination Therapy Optimization

    Patrick O. Bolan, Asaf Zviran, Lisa Brenan, Joshua S. Schiffman, Neville Dusaj, Amy Goodale, Federica Piccioni, Cory M. Johannessen, Dan A. Landau

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  • Science  ·  October 10, 2019

    Genetic regulatory variation in populations informs transcriptome analysis in rare disease.

    Pejman Mohammadi, Stephane E. Castel, Beryl B. Cummings, Jonah Einson, Christina Sousa, Paul Hoffman, Sandra Donkervoort, Zhuoxun Jiang, Payam Mohassel, A. Reghan Foley, Heather E. Wheeler, Hae Kyung Im, Carsten G. Bonnemann, Daniel G. MacArthur, Tuuli Lappalainen.

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  • Nature  ·  October 9, 2019

    Mapping the Human Body at Cellular Resolution — The NIH Human BioMolecular Atlas

    Michael P. Snyder, Shin Lin, Amanda Posgai, Mark Atkinson, Aviv Regev, Jennifer Rood, Orit Rozenblatt-Rosen, Leslie Gaffney, Anna Hupalowska, Rahul Satija, Nils Gehlenborg, Jay Shendure, Julia Laskin, Pehr Harbury, Nicholas A. Nystrom, Jonathan C. Silverstein, Ziv Bar-Joseph, Kun Zhang, Katy Börner, Yiing Lin, Richard Conroy, Dena Procaccini, Ananda L. Roy, Ajay Pillai, Marishka Brown, Zorina S. Galis.

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  • bioRxiv  ·  October 3, 2019  ·  Preprint

    Long non-coding RNA gene regulation and trait associations across human tissues.

    O. M. de Goede, N. M. Ferraro, D. C. Nachun, A. S. Rao, F. Aguet, A. N. Barbeira, S. E. Castel, S. Kim-Hellmuth, Y. Park, A. J. Scott, B. J. Strober, GTEx Consortium, C. D. Brown, X. Wen, I. M. Hall, A. Battle, T. Lappalainen, H. K. Im, K. G. Ardlie, T. Quertermous, K. Kirkegaard, S. B. Montgomery

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