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FTD Variant Alters Chromatin, Boosts Expression of TMEM106b

RESEARCH NEWS 2017-10-23 Research News Like mysterious signals emanating from the vastness of genomic space, some variations rise above the din of genome-wide association studies (GWAS). For most of these statistical blips, scientists can only guess how they influence disease. ...

Gene Expression Map of Human Body Gives Value to Variants

RESEARCH NEWS 2017-10-23 Research News The DNA packaged neatly inside the nucleus of almost every cell in a person may be identical, but which parts are translated varies dramatically by cell type and by individual genome. In a Herculean effort to connect form to function, the ...

PAPER Li X, Kim Y, Tsang EK, Davis JR, Damani FN, Chiang C, Hess GT, Zappala Z, Strober BJ, Scott AJ, Li A, Ganna A, Bassik MC, Merker JD, 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, Hall IM, Battle A, Montgomery SB

The impact of rare variation on gene expression across tissues.

Nature. 2017 Oct 11;550(7675):239-243. PubMed: 29022581

PAPER 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, Lead analysts:, Laboratory, Data Analysis &Coordinating Center (LDACC):, NIH program management:, Biospecimen collection:, Pathology:, eQTL manuscript working group:, Battle A, Brown CD, Engelhardt BE, Montgomery SB

Genetic effects on gene expression across human tissues.

Nature. 2017 Oct 11;550(7675):204-213. PubMed: 29022597

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