• Am J Med Genet B. Neuropsychiatr Genet  ·  December 14, 2015

    Genome-wide association study of schizophrenia in Ashkenazi Jews

    Goes FS, McGrath J, Avramopoulos D, Wolyniec P, Pirooznia M, Ruczinski I, Nestadt G, Kenny EE, Vacic V, Peters I, Lencz T, Darvasi A, Mulle JG, Warren ST, Pulver AE

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  • The Journal of Urology  ·  December 14, 2015

    MP47-09 Molecular Characterization of sarcomatoid clear cell renal cell carcinoma

    Roy Mano, William Lee, Alexander Sankin, Michael Chevinsky, Patricia Wang, Almedina Djesevic, Robert Motzer, Emily Cheng, Paul Russo, Dayna Oschwald, Umeshkumar Bhanot, Satish Tickoo, A. Ari Hakimi, James Hsieh

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  • Building highly-optimized, low-latency pipelines for genomic data analysis

    Y. Diao, A. Roy, and T. Bloom

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  • Nature  ·  October 1, 2015

    A global reference for human genetic variation.

    The 1000 Genomes Project Consortium (Including Lappalainen T., Erlich Y.)

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  • Genome Research  ·  October 1, 2015

    Functional genomics bridges the gap between quantitative genetics and molecular biology.

    Lappalainen T.

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  • Genome Research  ·  October 1, 2015

    A vision for ubiquitous sequencing.

    Erlich Y.

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  • Genes & Dev  ·  September 25, 2015

    A majority of m6A residues are in the last exons, allowing the potential for 3′ UTR regulation.

    Shengdong Ke, Endalkachew A. Alemu, Claudia Mertens, Emily Conn Gantman, John J. Fak, Aldo Mele, Bhagwattie Haripal, Ilana Zucker-Scharff, Michael J. Moore, Christopher Y. Park, Cathrine Broberg Vågbø, Anna Kus´nierczyk, Arne Klungland, James E. Darnell Jr., Robert B. Darnell.

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  • Neuron  ·  September 25, 2015

    De Novo Gene Disruptions in Children on the Autistic Spectrum.

    Ivan Iossifov, Michael Ronemus, Dan Levy, Zihua Wang, Inessa Hakker, Julie Rosenbaum, Boris Yamrom, Yoon-ha Lee, Giuseppe Narzisi, Anthony Leotta, Jude Kendall, Ewa Grabowska, Beicong Ma, Steven Marks, Linda Rodgers, Asya Stepansky, Jennifer Troge, Peter Andrews, Mitchell Bekritsky, Kith Pradhan, Elena Ghiban, Melissa Kramer, Jennifer Parla, Ryan Demeter, Lucinda L. Fulton, Robert S. Fulton, Vincent J. Magrini, Kenny Ye, Jennifer C. Darnell, Robert B. Darnell, Elaine R. Mardis, Richard K. Wilson, Michael C. Schatz, W. Richard McCombie, and Michael Wigler.

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  • PNAS  ·  September 25, 2015

    Low load for disruptive mutations in autism genes and their biased transmission.

    Ivan Iossifov, Dan Levya, Jeremy Allena, Kenny Yec, Michael Ronemusa, Yoon-ha Leea, Boris Yamroma, Michael Wigler.

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  • Bioinformatics. Epub  ·  September 22, 2015

    Approximately independent linkage disequilibrium blocks in human populations.

    Berisa T, Pickrell JK.

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  • Genome Biology  ·  September 18, 2015

    Tools and best practices for data processing in allelic expression analysis.

    Stephane E. Castel, Ami Levy-Moonshine, Pejman Mohammadi, Eric Banks and Tuuli Lappalainen

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  • Annals of Neurology  ·  August 4, 2015

    A destructive feedback loop mediated by CXCL10 in CNS inflammatory disease.

    Wendy K. Roberts, Ph.D., Nathalie E. Blachère, Ph.D., Mayu O. Frank, M.S., Athanasios Dousmanis, M.D., Ph.D., Richard M. Ransohoff, M.D., Robert B. Darnell, M.D., Ph.D.

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  • Nat Methods  ·  July 6, 2015

    G&T-seq: parallel sequencing of single-cell genomes and transcriptomes.

    Macaulay IC, Haerty W, Kumar P, Li YI, Hu TX, Teng MJ, Goolam M, Saurat N, Coupland P, Shirley LM, Smith M, Van der Aa N, Banerjee R, Ellis PD, Quail MA, Swerdlow HP, Zernicka-Goetz M, Livesey FJ, Ponting CP, Voet T.

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  • Cell  ·  July 1, 2015

    Highly Parallel Genome-wide Expression Profiling of Individual Cells Using Nanoliter Droplets.

    Macosko EZ, Basu A, Satija R, Nemesh J, Shekhar K, Goldman M, Tirosh I, Bialas AR, Kamitaki N, Martersteck EM, Trombetta JJ, Weitz DA, Sanes JR, Shalek AK, Regev A, McCarroll SA.

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  • JAMA Oncology  ·  July 1, 2015

    Whole-Exome Sequencing of Metastatic Cancer and Biomarkers of Treatment Response.

    Beltran H, Eng K, Mosquera JM, Sigaras A, Romanel A, Rennert H, Kossai M, Paul C, Faltas B, Fontugne J, Park K, Banfelder J, Prandi D, Madhukar N, Zhang T, Padilla J, Greco N, McNary TJ, Herrscher E, Wilkes D, MacDonald TY, Xue H, Vacic V, Emde AK, Oschwald D, Tan AY, Collins C, Gleave ME, Wang Y, Chakravarty D, Schiffman M, Kim R, Robinson BD, Nanus DM, Tagawa ST, Campagne F, Xiang JZ, Smogorzewska A, Demichelis F, Rickman D, Sboner A, Elemento O, Rubin MA.

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  • PLoS ONE  ·  June 23, 2015

    Gut Microbiota and Tacrolimus Dosing in Kidney Transplantation.

    Lee JR, Muthukumar T, Dadhania D, Taur Y, Jenq RR, Toussaint NC, Ling L, Pamer EG, Suthanthiran M.

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  • The Journal of Infectious Diseases  ·  June 23, 2015

    Loss of Microbiota-Mediated Colonization Resistance to Clostridium difficile Infection With Oral Vancomycin Compared With Metronidazole.

    Lewis BB, Buffie CG, Carter RA, Leiner I, Toussaint NC, Miller LC, Gobourne A, Ling L, Pamer EG.

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  • Science  ·  May 27, 2015

    The human transcriptome across tissues and individuals

    Melé M, Ferreira PG, Reverter F, DeLuca DS, Monlong J, Sammeth M, Young TR, Goldmann JM, Pervouchine DD, Sullivan TJ, Johnson R, Segrè AV, Djebali S, Niarchou A, The GTEx Consortium, Wright FA, Lappalainen T, Calvo M, Getz G, Dermitzakis ET, Ardlie KG, Guigó R.

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  • Science  ·  May 27, 2015

    Impact of predicted protein-truncating genetic variants on the human transcriptome.

    Rivas MA, Pirinen M, Conrad DF, Lek M, Tsang EK, Karczewski KJ, Maller JB, Kukurba KR, DeLuca D, Fromer M, Ferreira P, Smith KS, Zhang R, Zhao F, Banks E, Poplin R, Ruderfer D, Stenson PD, Cooper DN, Consortium TG, Consortium TG, Bustamante CD, Li JB, Daly MJ, Guigo R, Donnelly P, Ardlie K, Sammeth M, Dermitzakis ET, McCarthy MI, Montgomery SB, Lappalainen T, MacArthur DG.

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  • Genome Research  ·  May 27, 2015

    The landscape of genomic imprinting across diverse adult human tissues

    Baran Y, Subramaniam M, Biton A, Tukiainen T, Tsang EK, Rivas MA, Pirinen M, Gutierrez-Arcelus M, Smith KS, Kukurba KR, Zhang R, Eng C, Torgerson DG, Urbanek C; GTEx Consortium, Li JB, Rodriguez-Santana JR, Burchard EG, Seibold MA, MacArthur DG, Montgomery SB, Zaitlen NA, Lappalainen T.

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  • Cold Spring Harb Perspect Biol  ·  May 21, 2015

    Astrocytes in Neurodegenerative Disease.

    Phatnani H, Maniatis T.

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