Publication > Page 67
  • 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.

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  • 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.

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  • Molecular Cell  ·  October 5, 2017

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

    Montalbano A, Canver, MC and Sanjana NE.

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  • 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.
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  • 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.
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  • 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.

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  • Nature Genetics  ·  September 11, 2017

    Interpreting short tandem repeat variations in humans using mutational constraint.

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

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  • 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.

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  • 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.

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  • 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.
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