Search – Common Metabolic Diseases Genome Atlas

Showing 20 of 20 results

Publication
released
A genome-wide CRISPR screen identifies CALCOCO2 as a regulator of beta cell function influencing type 2 diabetes risk
Antje K Rottner, Yingying Ye, Elena Navarro-Guerrero, et al.
Nat Genet. 2022-12-21;55(1):54-65.
URL: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9839450/
Available supplemental data: website
File format: text
URL: https://hugeamp.org:8000/research.html?pageid=beta_cell_249
Data summary: Pancreatic beta cell function and type 2 diabetes predicted effector genes (Rottner AK et al., 2023)
Publication
released
The Tabula Sapiens: A multiple-organ, single-cell transcriptomic atlas of humans
Tabula Sapiens Consortium*; Robert C Jones, Jim Karkanias, Mark A Krasnow, et al.
Science. 2022-05-13;376(6594):eabl4896.
- doi:10.1126/science.abl4896
- PMID:35549404
Available supplemental data: website
URL: http://tabula-sapiens-portal.ds.czbiohub.org/
Data summary: The entire dataset can be explored interactively at http://tabula-sapiens-portal.ds.czbiohub.org/.
Available supplemental data: website
URL: https://doi.org/10.5281/zenodo.6069683
Data summary: The code used for the analysis is available from Zenodo (https://doi.org/10.5281/zenodo.6069683).
Available supplemental data: website
URL: https://doi.org/10.6084/m9.figshare.14267219
Data summary: Gene counts and metadata are available from figshare…
Available supplemental data: website
URL: https://registry.opendata.aws/tabula-sapiens/
Data summary: The raw data files are available from a public AWS S3 bucket…
Available supplemental data: website
URL: https://doi.org/10.6084/m9.figshare.14962947
Data summary: The histology images are available from figshare (https://doi.org/10.6084/m9.figshare.14962947).
Available supplemental data: website
URL: https://doi.org/10.6084/m9.figshare.14977281
Data summary: SpliZ scores are available from figshare (https://doi.org/10.6084/m9.figshare.14977281).
Publication
released
Prioritization of autoimmune disease-associated genetic variants that perturb regulatory element activity in T cells
Kousuke Mouri, Michael H. Guo, Carl G. de Boer, et al.
Nat Genet. 2022-05-01;54(5):603-612.
- doi:10.1038/s41588-022-01056-5
- PMID:35513721
Publication
released
A map of transcriptional heterogeneity and regulatory variation in human microglia
Adam M. H. Young, Natsuhiko Kumasaka, Fiona Calvert, et al.
Nat Genet. 2021-06-03;53(6):861-868.
Publication
released
Single-cell chromatin accessibility identifies pancreatic islet cell type- and state-specific regulatory programs of diabetes risk
Joshua Chiou, Chun Zeng, Zhang Cheng, et al.
Nat Genet. 2021-04-01;53(4):455-466.
- doi:10.1038/s41588-021-00823-0
- PMID:33795864
Publication
released
Liquid chromatin Hi-C characterizes compartment-dependent chromatin interaction dynamics
Houda Belaghzal, Tyler Borrman, Andrew D Stephens, et al.
Nat Genet. 2021-02-11;53(3):367-378.
Data summary: All sequencing data have been submitted to a public data repository (GEO; accession number…
Publication
released
A human cell atlas of fetal gene expression
Junyue Cao, Diana R O'Day, Hannah A Pliner, et al.
Science. 2020-11-13;370(6518):eaba7721.
Available supplemental data: website
File format: other format
URL: https://descartes.brotmanbaty.org/bbi/human-chromatin-during-development/
Data summary: sci-ATAC-seq data of human fetal tissues:…
Publication
released
A human cell atlas of fetal chromatin accessibility
Silvia Domcke, Andrew J Hill, Riza M Daza, et al.
Science. 2020-11-13;370(6518):eaba7612.
Available supplemental data: website
File format: other format
URL: https://descartes.brotmanbaty.org/bbi/human-chromatin-during-development/
Data summary: sci-ATAC-seq data of human fetal tissues:…
Publication
released
The GTEx Consortium atlas of genetic regulatory effects across human tissues
GTEx Consortium.
Science. 2020-09-11;369(6509):1318-1330.
Publication
released
Single-cell epigenomic analyses implicate candidate causal variants at inherited risk loci for Alzheimer’s and Parkinson’s diseases
M Ryan Corces, Anna Shcherbina, Soumya Kundu, et al.
Nat Genet. 2020 Oct 26;52(11):1158-1168.
Publication
released
Exploring genetic interaction manifolds constructed from rich single-cell phenotypes
Thomas M Norman, Max A Horlbeck, Joseph M Replogle, et al.
Science. 2019-08-23;365(6455):786-793.
Publication
released
Transcriptionally active HERV-H retrotransposons demarcate topologically associating domains in human pluripotent stem cells
Yanxiao Zhang, Ting Li, Sebastian Preissl, et al.
Nat Genet. 2019-08-19;51(9):1380-1388.
Available supplemental data: website
Data summary: All sequencing datasets have been deposited on GEO with the accession number GSE116862.
Publication
released
Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps
Anubha Mahajan, Daniel Taliun, Matthias Thurner, et al.
Nat Genet. 2018-10-08;50(11):1505-1513.
Publication
released
Type 2 diabetes risk alleles in PAM impact insulin release from human pancreatic β-cells
Soren K Thomsen, Anne Raimondo, Benoit Hastoy, et al.
Nat Genet. 2018-07-27;50(8):1122-1131.
Publication
released
Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition
Kerrin S Small, Marijana Todorčević, Mete Civelek, et al.
Nat Genet. 2018-04-09;50(4):572-580.
Publication
released
Shared genetic effects on chromatin and gene expression indicate a role for enhancer priming in immune response
Kaur Alasoo, Julia Rodrigues, Subhankar Mukhopadhyay, et al.
Nat Genet. 2018-01-29;50(3):424-431.
Publication
released
Molecular and functional variation in iPSC-derived sensory neurons
Jeremy Schwartzentruber, Stefanie Foskolou, Helena Kilpinen, et al.
Nat Genet. 2017-12-11;50(1):54-61.
Publication
released
Variation in the glucose transporter gene SLC2A2 is associated with glycemic response to metformin
Kaixin Zhou, Sook Wah Yee, Eric L Seiser, et al.
Nat Genet. 2016-08-08;48(9):1055-1059.
Publication
released
Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins
Alfonso Buil, Andrew Anand Brown, Tuuli Lappalainen, et al.
Nat Genet. 2014-12-01;47(1):88-91.
Publication
released
Single-nucleus chromatin accessibility and transcriptomic characterization of Alzheimer’s Disease
Samuel Morabito, Emily Miyoshi, Neethu Michael, et al.
Nat Genet. 2021-07-08;53(8):1143-1155.
Available supplemental data: website
File format: other format
URL: https://www.synapse.org/#!Synapse:syn22079621/
Data summary: All the multi-omics raw and processed data are available here
Available supplemental data: website
File format: other format
URL: http://swaruplab.bio.uci.edu/singlenucleiAD/
Data summary: The data can be accessed through online web app
Available supplemental data: website
File format: other format
URL: https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE174367
Data summary: Raw sequencing data have been deposited into the National Center for Biotechnology Information…

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Showing 20 of 20 results