• Nature Communications  ·  December 19, 2017

    The evolutionary landscape of chronic lymphocytic leukemia treated with ibrutinib targeted therapy.

    Landau DA, Sun C, Rosebrock D, Herman SEM, Fein J, Sivina M, Underbayev C, Liu D, Hoellenriegel J, Ravichandran S, Farooqui MZH, Zhang W, Cibulskis C, Zviran A, Neuberg DS, Livitz D, Bozic I, Leshchiner I, Getz G, Burger JA, Wiestner A & Wu, CJ.

    link out icon
  • PLoS Genetics  ·  September 28, 2017

    The population genetics of human disease: The case of recessive, lethal mutations.

    Amorim CEG, Gao Z, Baker Z, Diesel JF, Simons YB, Haque IS, Pickrell J, Przeworski M.

    link out icon
  • Elife  ·  September 6, 2017

    lncRNA requirements for mouse acute myeloid leukemia and normal differentiation.

    Delás MJ, Sabin LR, Dolzhenko E, Knott SR, Munera Maravilla E, Jackson BT, Wild SA, Kovacevic T, Stork EM, Zhou M, Erard N, Lee E, Kelley DR, Roth M, Barbosa ISA, Zuber J, Rinn JL, Smith AD, Hannon G.

    link out icon
  • Royal Society Open Science  ·  October 18, 2017

    Speciation over the edge: gene flow among non-human primate species across a formidable biogeographic barrier.

    Evans BJ, Tosi AJ, Zeng K, Dushoff J, Corvelo A, Melnick DJ.

    link out icon
  • Elife  ·  November 28, 2017

    Rapid re-identification of human samples using portable DNA sequencing.

    Zaaijer S, Gordon A, Speyer D, Piccone R, Groen SC, Erlich Y.

    link out icon
  • Elife  ·  December 5, 2017

    Science Forum: The Human Cell Atlas.

    Regev A, Teichmann SA ,Lander ES, Amit I, Benoist C, Birney E, Bodenmiller B, Campbell PJ, Carninci P, Clatworthy M, Clevers H, Deplancke B, Dunham I, Eberwine J, Eils R, Enard W, Farmer A, Fugger L, Göttgens B, Hacohen N, Haniffa M, Hemberg M, Kim SK, Klenerman P, Kriegstein A, Lein E, Linnarsson S, Lundberg E, Lundeberg J, Majumder P, Marioni JC, Merad M, Mhlanga M, Nawijn M, Netea M, Nolan G, Pe’er D, Phillipakis A, Ponting CP, Quake SR, Reik W, Rozenblatt-Rosen O, Sanes JR, Satija R, Schumacher TN, Shalek AK, Shapiro E, Sharma P, Shin JW, Stegle O, Stratton MR, Stubbington MJT, Theis FJ, Uhlen M, van Oudenaarden A, Wagner A, Watt FM, Weissman JS, Wold BJ, Xavier RJ, Yosef N; Human Cell Atlas Meeting Participants.

    link out icon
  • Science  ·  December 7, 2017

    Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis.

    Bae T, Tomasini L, Mariani J, Zhou B, Roychowdhury T, Franjic D, Pletikos M, Pattni R, Chen BJ, Venturini E, Riley-Gillis B, Sestan N, Urban AE, Abyzov A, Vaccarino FM.

    link out icon
  • Cell  ·  November 16, 2017

    Cancer Evolution: No Room for Negative Selection.

    Bakhoum SF, Landau DA.
    link out icon
  • Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1016). Chapter First Online: 2017  ·  November 13, 2017

    Target Discovery for Precision Medicine Using High-Throughput Genome Engineering.

    Guo X, Chitale P, Sanjana NE.

    link out icon
  • Cell  ·  November 2, 2017

    SnapShot: Discovering Genetic Regulatory Variants by QTL Analysis.

    Brandt M, Lappalainen T.

    link out icon
  • Nature Communications  ·  October 26, 2017

    Resistance to checkpoint blockade therapy through inactivation of antigen presentation.

    Sade-Feldman M, Jiao YJ, Chen JH, Rooney MS, Barzily-Rokni M, Eliane JP, Bjorgaard SL, Hammond MR, Vitzthum H, Blackmon SM, Frederick DT, Hazar-Rethinam M, Nadres BA, Van Seventer EE, Shukla SA, Yizhak K, Ray JP, Rosebrock D, Livitz D, Adalsteinsson V, Getz G, Duncan LM, Li B, Corcoran RB, Lawrence DP, Stemmer-Rachamimov A, Boland GM, Landau DA, Flaherty KT, Sullivan RJ, Hacohen N.

    link out icon
  • Nature  ·  October 11, 2017

    Landscape of X chromosome inactivation across human tissues.

    Tukiainen T, Villani AC, Yen A, Rivas MA, Marshall JL, Satija R, Aguirre M, Gauthier L, Fleharty M, Kirby A, Cummings BB, Castel SE, Karczewski KJ, Aguet F, Byrnes A; GTEx Consortium; Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group; Statistical Methods groups—Analysis Working Group; Enhancing GTEx (eGTEx) groups; NIH Common Fund; NIH/NCI; NIH/NHGRI; NIH/NIMH; NIH/NIDA; Biospecimen Collection Source Site—NDRI; Biospecimen Collection Source Site—RPCI; Biospecimen Core Resource—VARI; Brain Bank Repository—University of Miami Brain Endowment Bank; Leidos Biomedical—Project Management; ELSI Study; Genome Browser Data Integration &Visualization—EBI; Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz, Lappalainen T, Regev A, Ardlie KG, Hacohen N, MacArthur DG.

    link out icon
  • Genome Research  ·  October 11, 2017

    Quantifying the regulatory effect size of cis-acting genetic variation using allelic fold change.

    Mohammadi P, Castel SE, Brown AA, Lappalainen T.

    link out icon
  • Molecular Cell  ·  October 5, 2017

    High-Throughput Approaches to Pinpoint Function within the Noncoding Genome.

    Montalbano A, Canver, MC and Sanjana NE.

    link out icon
  • Nature  ·  March 5, 2018

    Developmental diversification of cortical inhibitory interneurons.

    Mayer C, Hafemeister C, Bandler RC, Machold R, Allaway K, Jaglin X, Brito RB, Butler A, Fishell G, Satija R.
    link out icon
  • Communications Biology  ·  March 22, 2018

    Lancet: genome-wide somatic variant calling using localized colored DeBruijn graphs.

    Narzisi G, Corvelo A, Arora K, Bergmann E, Shah M, Musunuri R, Emde, A-K, Robine N, Vacic V, Zody MC.
    link out icon
  • Nature Genetics  ·  September 11, 2017

    Interpreting short tandem repeat variations in humans using mutational constraint.

    Gymrek M, Willems T, Reich D, Erlich Y.

    link out icon
  • Cell  ·  September 28, 2017

    Genomic Patterns of De Novo Mutation in Simplex Autism.

    Turner TN, Coe BP, Dickel DE, Hoekzema K, Nelson BJ, Zody MC, Kronenberg ZN, Hormozdiari F, Raja A, Pennacchio LA, Darnell RB,
    Eichler EE.

    link out icon
  • Genome Research  ·  August 9, 2018

    Whole-Genome Bisulphite Sequencing With Improved Accuracy and Cost

    Suzuki M, Liao W, Wos F, Johnston AD, DeGrazia J, Ishii J, Bloom T, Zody MC, Germer S, Greally JM.

    link out icon
  • PLOS Biology  ·  December 30, 2018

    Enabling Precision Medicine via standard communication of NGS provenance, analysis, and results.

    Alterovitz G, Dean DA II, Goble C, Crusoe MR, Soiland-Reyes S, Bell A, Hayes A, King CHS IV, Johanson E, Thompson EE, Donaldson E, Tsang HS, Goecks J, Almeida JS, Guo L, Walderhaug M, Walsh P, Kahsay R, Bloom T, Lai Y, Simonyan V, Mazumder R.

    link out icon
  • Nature Genetics  ·  August 20, 2018

    Modified penetrance of coding variants by cis-regulatory variation shapes human traits.

    Castel SE, Cervera A, Mohammadi P, Aguet F, Reverter F, Wolman A, Guigo R, Vasileva A, Lappalainen T.
    link out icon
Decorative image color fade left Decorative image color fade right Decorative image color fade