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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

Matt Troyer


Denali Therapeutics
South San Francisco, United States

Andrew Cole


Massachusetts General Hospital/Harvard Medical School
Cambridge, United States

Jeffrey L. Noebels on Hippocampal Storms Leave Lasting Marks

COMMENT Chronic hippocampal seizures impair cognition, an all-too-common biological comorbidity of temporal lobe epilepsy. What can be done? In the face of irreversible hippocampal cell loss followed by extensive structural rearrangements due to axonal sprouting, ...

Hippocampal Storms Leave Lasting Marks

RESEARCH NEWS 2017-10-20 Research News In Alzheimer’s disease, seizures in the hippocampus contribute to cognitive decline. Scientists have known for some time that this correlates with persistent loss of the calcium-binding protein calbindin-D28k, a regulator of synaptic ...

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