Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Biospecimen Collection Source Site—RPCI"'
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
https://escholarship.org/uc/item/3j47t40b
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
https://escholarship.org/uc/item/8n25b8s7
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
https://escholarship.org/uc/item/24r749n7