Showing 24 of 24 results

• Publication

  released

  Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity

  Steven Gazal, Omer Weissbrod, Farhad Hormozdiari, et al.

  Nature Genetics. 2022-06-06;(2022)

  • doi:10.1101/2021.08.02.21261488

  URL: https://doi.org/10.5281/zenodo.6354007

  Data summary: The list of 19,995 genes, summary statistics of the 63 independent traits, training and validation…See more

  Data summary: Links for all data sets used to create S2G strategies are provided in Supplementary Table 26.

  URL: http://www.ukbiobank.ac.uk/

  Data summary: Access to the UK Biobank resource is available via application

  URL: https://www.ebi.ac.uk/gwas/api/search/downloads/full

  Data summary: The GWAS Catalog is available

  URL: https://raw.githubusercontent.com/opentargets/genetics-gold-standards/master/gold_standards/processed/gwas_gold_standards.191108.tsv

  Data summary: Open Targets SNP–gene pairs are available

  URL: https://www.dropbox.com/s/kz2c49rpm2yanf5/all_byCS_rev1.txt?dl=0

  Data summary: SNP–gene pairs from ref48 are available

  URL: https://alkesgroup.broadinstitute.org/cS2G/code

  Data summary: The code to estimate precision and recall of S2G strategies and the code to create combined S2G…See more

  URL: https://doi.org/10.5281/zenodo.6415925

  Data summary: The code to estimate precision and recall of S2G strategies and the code to create combined S2G…See more

• Publication

  released

  The GTEx Consortium atlas of genetic regulatory effects across human tissues

  GTEx Consortium.

  Science. 2020-09-11;369(6509):1318-1330.

  • doi:10.1126/science.aaz1776
  • PMID:32913098
  • PMCID:PMC7737656

• Publication

  released

  Evolutionary Selection and Constraint on Human Knee Chondrocyte Regulation Impacts Osteoarthritis Risk

  Daniel Richard, Zun Liu, Jiaxue Cao, et al.

  Cell. 2020-04-16;181(2):362-381.

  • PMID:32220312
  • PMCID:PMC7179902
  • doi:10.1016/j.cell.2020.02.057

  URL: https://www.sciencedirect.com/science/article/abs/pii/S0092867420302348

• Publication

  released

  Landscape of stimulation-responsive chromatin across diverse human immune cells

  Diego Calderon, Michelle L. T. Nguyen, Anja Mezger, et al.

  Nature Genetics. 2019-9-30;51:1494–1505.

  • doi:10.1038/s41588-019-0505-9
  • PMID:31570894
  • PMCID:PMC6858557

• Publication

  released

  Chromatin activity at GWAS loci identifies T cell states driving complex immune diseases

  Blagoje Soskic, Eddie Cano-Gamez, Deborah J. Smyth, et al.

  Nature Genetics. 2019-9-23;51:1486–1493.

  • doi:10.1038/s41588-019-0493-9
  • PMCID:PMC6872452
  • PMID:31548716

• Publication

  released

  The impact of proinflammatory cytokines on the β-cell regulatory landscape provides insights into the genetics of type 1 diabetes

  Mireia Ramos-Rodríguez, Helena Raurell-Vila, Maikel L. Colli, et al.

  Nature Genetics. 2019-11-01;51:1588–1595.

  • doi:10.1038/s41588-019-0524-6
  • PMID:31676868

• Publication

  released

  A compendium of promoter-centered long-range chromatin interactions in the human genome

  Inkyung Jung, Anthony Schmitt, Yarui Diao, et al.

  Nature Genetics. 2019-09-09;51:1442–1449.

  • doi:10.1038/s41588-019-0494-8
  • PMID:31501517

  URL: https://www.nature.com/articles/s41588-019-0494-8

• 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.

  • doi:10.1126/science.aax4438
  • PMID:31395745
  • PMCID:PMC6746554

• Publication

  released

  Human Pancreatic Islet Three-dimensional Chromatin Architecture Provides Insights into The Genetics of Type 2 Diabetes

  Irene Miguel-Escalada, Silvia Bonàs-Guarch, Inês Cebola, et al.

  Nature Genetics. 2019-06-28;51:1137-1148.

  • doi:10.1038/s41588-019-0457-0
  • PMID:31253982

  URL: https://www.nature.com/articles/s41588-019-0457-0

• Publication

  released

  Extensive Heterogeneity and Intrinsic Variation in Spatial Genome Organization

  Elizabeth H Finn, Gianluca Pegoraro, Hugo B Brandão, et al.

  Cell. 2019-03-07;176(6):1502-1515.e10.

  • doi:10.1016/j.cell.2019.01.020
  • PMID:30799036
  • PMCID:PMC6408223

  Data summary: The Hi-C data has been deposited in GEO under ID code GSE107051, and in the 4D Nucleome data…See more

• Publication

  released

  Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration

  Rinki Ratnapriya, Olukayode A. Sosina, Margaret R. Starostik, et al.

  Nature Genetics. 2019-02-11;51:606–610.

  • doi:10.1038/s41588-019-0351-9
  • PMID:30742112

• Publication

  released

  Single-cell RNA sequencing identifies celltype-specific cis-eQTLs and co-expression QTLs

  Monique G P van der Wijst, Harm Brugge, Dylan H de Vries, et al.

  Nature Genetics. 2018-4-2;50:493–497.

  • doi:10.1038/s41588-018-0089-9
  • PMCID:PMC5905669
  • PMID:29610479

• Publication

  released

  An Atlas of Genetic Influences on Osteoporosis in Humans and Mice

  John A. Morris, John P. Kemp, Scott E. Youlten, et al.

  Nature Genetics. 2018-12-31;51(2):258-266.

  • doi:10.1038/s41588-018-0302-x
  • PMID:30598549
  • PMCID:PMC6358485

  URL: https://www.nature.com/articles/s41588-018-0302-x

• Publication

  released

  Impact of Genetic Polymorphisms on Human Immune Cell Gene Expression

  Benjamin J Schmiedel, Divya Singh, Ariel Madrigal, et al.

  Cell. 2018-11-29;175(6):1701-1715.e16.

  • doi:10.1016/j.cell.2018.10.022
  • PMID:30449622
  • PMCID:PMC6289654

• Publication

  released

  Single-Cell Analysis of Human Pancreas Reveals Transcriptional Signatures of Aging and Somatic Mutation Patterns

  Martin Enge, H. Efsun Arda, Marco Mignardi, et al.

  Cell. 2017-10-05;171(2):321-330.

  • doi:10.1016/j.cell.2017.09.004
  • PMID:28965763

• Publication

  released

  Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms

  Victor Rusu, Eitan Hoch, Josep M Mercader, et al.

  Cell. 2017-06-29;170(1):199-212.e20.

  • doi:10.1016/j.cell.2017.06.011
  • PMID:28666119
  • PMCID:PMC5562285

• Publication

  released

  β-Glucan Reverses the Epigenetic State of LPS-Induced Immunological Tolerance

  Boris Novakovic, Ehsan Habibi, Shuang-Yin Wang, et al.

  Cell. 2016-11-17;167(5):1354-1368.e14.

  • doi:10.1016/j.cell.2016.09.034
  • PMID:27863248
  • PMCID:PMC5927328

• Publication

  released

  Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells

  Chen L, Ge B, Casale FP, et al.

  Cell. 2016-11-17;167(5):1398-1414.

  • doi:10.1016/j.cell.2016.10.026
  • PMCID:PMC5119954
  • PMID:27863251

• Publication

  released

  Genetic Ancestry and Natural Selection Drive Population Differences in Immune Responses to Pathogens

  Yohann Nédélec, Joaquín Sanz, Golshid Baharian, et al.

  Cell. 2016-10-20;167(3):657-669.e21.

  • doi:10.1016/j.cell.2016.09.025
  • PMID:27768889

• Publication

  released

  Genetic Variation Determines PPARγ Function and Anti-diabetic Drug Response In Vivo

  Raymond E. Soccio, Eric R. Chen, Satyajit R. Rajapurkar, et al.

  Cell. 2015-07-02;162(1):33-44.

  • doi:10.1016/j.cell.2015.06.025
  • PMID:26140591

• Publication

  released

  A 3D Map of the Human Genome at Kilobase Resolution Reveals Principles of Chromatin Looping

  Suhas S.P. Rao, Miriam H. Huntley, Neva C. Durand, et al.

  Cell. 2014-12-18;159(7):1665-1680.

  • doi:10.1016/j.cell.2014.11.021
  • PMID:25497547

  URL: https://www.cell.com/cell/fulltext/S0092-8674(14)01497-4

• Publication

  released

  Pancreatic Islet Enhancer Clusters Enriched In Type 2 Diabetes Risk–associated Variants

  Lorenzo Pasquali, Kyle J. Gaulton, Santiago A. Rodríguez-Seguí, et al.

  Nature Genetics. 2014-02;46(2):136-143.

  • doi:10.1038/ng.2870
  • PMID:24413736

• Publication

  released

  Comparative Epigenomic Analysis Of Murine And Human Adipogenesis

  Tarjei S. Mikkelsen, Zhao Xu, Xiaolan Zhang, et al.

  Cell. 2010-10-01;143(1):156-169.

  • doi:10.1016/j.cell.2010.09.006
  • PMID:20887899

• Publication

  released

  A map of open chromatin in human pancreatic islets

  Kyle J Gaulton, Takao Nammo, Lorenzo Pasquali, et al.

  Nature Genetics. 2010-01-01;42(3):255–259.

  • PMID:20118932
  • doi:10.1038/ng.530