• Genome Research  ·  September 8, 2017

    Detection of long repeat expansions from PCR-free whole-genome sequence data

    Dolzhenko E, van Vugt JJFA, Shaw RJ, Bekritsky MA, van Blitterswijk M, Narzisi G, Ajay SS, Rajan V, Kingsbury Z, Humphray SJ, Schellevis RD, Brands WJ, Baker M, Rademakers R, Kooyman M, Tazelaar GHP, van Es MA, McLaughlin R, Sproviero W, Shatunov A, Jones A, Khleifat AA, Pittman A, Morgan S, Hardiman O, Al-Chalabi A, Shaw C, Smith B, Neo EJ, Morrison K, Shaw PJ, Reeves C, Winterkorn L, Wexler, NS The US-Venezuela Collaborative Research Group, Housman DE, Ng C, Li A, Taft RJ, van den Berg LH, Bentley DR, Veldink JH, Eberle MA

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  • Nature Reviews Genetics  ·  July 3, 2017

    The methyltransferase SETDB1 regulates a large neuron-specific topological chromatin domain.

    Jiang Y, Loh YE, Rajarajan P, Hirayama T, Liao W, Kassim BS, Javidfar B, Hartley BJ, Kleofas L, Park RB, Labonte B, Ho SM, Chandrasekaran S, Do C, Ramirez BR, Peter CJ, C W JT, Safaie BM, Morishita H, Roussos P, Nestler EJ, Schaefer A, Tycko B, Brennand KJ, Yagi T, Shen L, Akbarian S.

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  • Nature Reviews Genetics  ·  May 30, 2017

    Associating cellular epigenetic models with human phenotypes.

    Lappalainen T, Greally JM.

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  • PLoS Genetics  ·  April 28, 2017

    Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.

    Hodonsky CJ, Jain D, Schick UM, Morrison JV, Brown L, McHugh CP, Schurmann C, Chen DD, Liu YM, Auer PL, Laurie CA, Taylor KD, Browning BL, Li Y, Papanicolaou G, Rotter JI, Kurita R, Nakamura Y, Browning SR, Loos RJF, North KE, Laurie CC, Thornton TA, Pankratz N, Bauer DE, Sofer T, Reiner AP.

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  • Nature Genetics  ·  May 15, 2017

    PGBD5 promotes site-specific oncogenic mutations in human tumors.

    Henssen AG, Koche R, Zhuang J, Jiang E, Reed C, Eisenberg A, Still E, MacArthur I, Rodríguez-Fos, Gonzalez S, Puiggròs M, Blackford AN, Mason CE, de Stanchina E, Gönen M, Emde A-K, Shah M, Arora K, Reeves C, Socci, ND, Perlman E, Antonescu, CR, Roberts, CWM, Steen H, Mullen E, Jackson SP, Torrent D, Weng Z, Armstrong SA & Kentsis, A.

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  • Nature Methods  ·  April 24, 2017

    Genome-wide profiling of heritable and de novo STR variations.

    Willems T, Zielinski, D, Gordon A, Gymrek M, Erlich Y.

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  • Science  ·  April 21, 2017

    Single-cell RNA-seq reveals new types of human blood dendritic cells, monocytes, and progenitors.

    Villani AC, Satija, R, Reynolds, G, Sarkizova S, Shekhar K, Fletcher J, Griesbeck M, Butler A, Zheng S, Lazo S, Jardine L, Dixon D, Stephenson E, Nilsson E, Grundberg I, McDonald D, Filby A, Li W, De Jager PL, Rozenblatt-Rosen O, Lane AA, Haniffa M, Regev A, Hacohen N.

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  • Nature Reviews Clinical Oncology  ·  April 4, 2017

    Prostate cancer: Clinical hallmarks in whole cancer genomes.

    Imielinski M, Rubin MA.

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  • Nature Protocols  ·  March 23, 2017

    Genome-scale CRISPR-Cas9 knockout and transcriptional activation screening.

    Joung J, Konermann S, Gootenberg JS, Abudayyeh OO, Platt RJ, Brigham MD, Sanjana NE, Zhang F.

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  • Bioinformatics  ·  March 11, 2017

    DNA Compass: a secure, client-side site for navigating personal genetic information.

    Curnin C, Gordon A, Erlich Y.

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  • Adv Exp Med Biol  ·  December 2, 2016

    Endometrial Carcinoma: Specific Targeted Pathways.

    Eritja N, Yeramian A, Chen BJ, Llobet-Navas D, Ortega E, Colas E, Abal M, Dolcet X, Reventos J, Matias-Guiu X.

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  • Nat Genet  ·  January 16, 2017

    Case-control association mapping by proxy using family history of disease.

    Liu JZ, Erlich Y, Pickrell JK

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  • Cell  ·  January 11, 2017

    Insertions and Deletions Target Lineage-Defining Genes in Human Cancers.

    Imielinski M, Guo G, Meyerson M.

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  • Science  ·  March 3, 2017

    DNA Fountain enables a robust and efficient storage architecture.

    Erlich, Y, Zielinski, D

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  • Cell Systems, Available online  ·  January 25, 2017

    Genome-Scale Networks Link Neurodegenerative Disease Genes to α-Synuclein through Specific Molecular Pathways

    Vikram Khurana, Jian Peng, Chee Yeun Chung, Pavan K. Auluck, Saranna Fanning, Daniel F. Tardiff, Theresa Bartels, Martina Koeva, Stephen W. Eichhorn, Hadar Benyamini, Yali Lou, Andy Nutter-Upham, Valeriya Baru, Yelena Freyzon, Nurcan Tuncbag, Michael Costanzo, Bryan-Joseph San Luis, David C. Schöndorf, M. Inmaculada Barrasa, Sepehr Ehsani, Neville Sanjana, Quan Zhong, Thomas Gasser, David P. Bartel, Marc Vidal, Michela Deleidi, Charles Boone, Ernest Fraenkel, Bonnie Berger, Susan Lindquist

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  • Trends Genet  ·  September 1, 2016

    CRISPR Screens to Discover Functional Noncoding Elements.

    Wright JB, Sanjana NE.

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  • Am J Hum Genet  ·  September 1, 2016

    DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.

    Joshi RS, Garg P, Zaitlen N, Lappalainen T, Watson CT, Azam N, Ho D, Li X, Antonarakis SE, Brunner HG, Buiting K, Cheung SW, Coffee B, Eggermann T, Francis D, Geraedts JP, Gimelli G, Jacobson SG, Le Caignec C, de Leeuw N, Liehr T, Mackay DJ, Montgomery SB, Pagnamenta AT, Papenhausen P, Robinson DO, Ruivenkamp C, Schwartz C, Steiner B, Stevenson DA, Surti U, Wassink T, Sharp AJ.

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  • Nature  ·  September 5, 2016

    Targeting renal cell carcinoma with a HIF-2 antagonist.

    Chen W, Hill H, Christie A, Kim MS, Holloman E, Pavia-Jimenez A, Homayoun F, Ma Y, Patel N, Yell P, Hao G, Yousuf Q, Joyce A, Pedrosa I, Geiger H, Zhang H, Chang J, Gardner KH, Bruick RK, Reeves C, Hwang TH, Courtney K, Frenkel E, Sun X, Zojwalla N, Wong T, Rizzi JP, Wallace EM, Josey JA, Xie Y, Xie XJ, Kapur P, McKay RM, Brugarolas J.

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