Výsledky vyhledávání

The Bermuda Triangle: The Pragmatics, Policies, and Principles for Data Sharing in the History of the Human Genome Project

Autor: Rachel A. Ankeny, Kathryn Maxson Jones, Robert Cook-Deegan

Publikováno v: Journal of the history of biology

The Bermuda Principles for DNA sequence data sharing are an enduring legacy of the Human Genome Project (HGP). They were adopted by the HGP at a strategy meeting in Bermuda in February of 1996 and implemented in formal policies by early 1998, mandati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::478735f0c128f77a85b936c6af9ae8cc
https://doi.org/10.1007/s10739-018-9538-7

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Genetically elevated gamma-glutamyltransferase and Alzheimer's disease

Autor: Setor K Kunutsor, Jari A. Laukkanen, Stephen Burgess

Publikováno v: Kunutsor, S K, Laukkanen, J A & Burgess, S 2018, ' Genetically elevated gamma-glutamyltransferase and Alzheimer's disease ', Experimental Gerontology, vol. 106, pp. 61-66 . https://doi.org/10.1016/j.exger.2018.03.001
Experimental Gerontology

Observational epidemiological evidence supports a linear and independent association between serum gamma-glutamyltransferase (GGT) concentrations and the risk of Alzheimer's disease (AD). However, the causality of this association has not been previo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44dcc8b322faa35ec55fe6456cc0b6fe
https://doi.org/10.1016/j.exger.2018.03.001

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Genetic effects on gene expression across human tissues

Autor: 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, Alexis, Brown, Christopher D, Engelhardt, Barbara E, Montgomery, Stephen B

Publikováno v: Nature, vol 550, iss 7675

Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project ai

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a32888571103653ffb9f933e5a25b832
https://escholarship.org/uc/item/24r749n7

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Landscape of X chromosome inactivation across human tissues

Autor: Tukiainen, Taru, Villani, Alexandra-Chloé, Yen, Angela, Rivas, Manuel A, Marshall, Jamie L, Satija, Rahul, Aguirre, Matt, Gauthier, Laura, Fleharty, Mark, Kirby, Andrew, Cummings, Beryl B, Castel, Stephane E, Karczewski, Konrad J, Aguet, François, Byrnes, Andrea, 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, Tuuli, Regev, Aviv, Ardlie, Kristin G, Hacohen, Nir, MacArthur, Daniel G

Publikováno v: Nature, vol 550, iss 7675

X chromosome inactivation (XCI) silences transcription from one of the two X chromosomes in female mammalian cells to balance expression dosage between XX females and XY males. XCI is, however, incomplete in humans: up to one-third of X-chromosomal g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::0a24cb9a9dc84dd453f14933ec92f26e
https://escholarship.org/uc/item/3j47t40b

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The impact of rare variation on gene expression across tissues

Autor: Li, Xin, Kim, Yungil, Tsang, Emily K, Davis, Joe R, Damani, Farhan N, Chiang, Colby, Hess, Gaelen T, Zappala, Zachary, Strober, Benjamin J, Scott, Alexandra J, Li, Amy, Ganna, Andrea, Bassik, Michael C, Merker, Jason D, 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, Ira M, Battle, Alexis, Montgomery, Stephen B

Publikováno v: Nature, vol 550, iss 7675

Rare genetic variants are abundant in humans and are expected to contribute to individual disease risk. While genetic association studies have successfully identified common genetic variants associated with susceptibility, these studies are not pract

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::1bf49e01e92b38495418fe06bd9eb268
https://escholarship.org/uc/item/8n25b8s7

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Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes

Autor: Majithia, Amit R, Flannick, Jason, Shahinian, Peter, Guo, Michael, Bray, Mark-Anthony, Fontanillas, Pierre, Gabriel, Stacey B, GoT2D Consortium, NHGRI JHS/FHS Allelic Spectrum Project, SIGMA T2D Consortium, T2D-GENES Consortium, Rosen, Evan D, Altshuler, David

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, vol 111, iss 36

Peroxisome proliferator-activated receptor gamma (PPARG) is a master transcriptional regulator of adipocyte differentiation and a canonical target of antidiabetic thiazolidinedione medications. In rare families, loss-of-function (LOF) mutations in PP

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::2ef1a2ddf70d096820674608de39c7c1
https://escholarship.org/uc/item/0dr9t325

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Building the Infrastructure for Data Access and Reuse in Collaborative Research : An Analysis of the Legal Context

Autor: Fitzgerald, Anne M., Pappalardo, Kylie M., Fitzgerald, Brian F., Austin, Anthony C., Abbot, John W., Cosman, Brendan L., O'Brien, Damien S., Singleton, Bill

Publikováno v: IndraStra Global.

This Report examines the legal framework within which research data is generated, managed, disseminated and used. It provides an overview of the operation of copyright law, contract and confidentiality laws, as well as a range of legislation - privac

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https://igi.indrastra.com/items/show/30635

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