Cited by 123

Promoter-interacting expression quantitative trait loci are enriched for functional genetic variants

Chandra, Vivek, Bhattacharyya, Sourya, Schmiedel, Benjamin J., Madrigal, Ariel, Gonzalez-Colin, Cristian, Fotsing, Stephanie, Crinklaw, Austin, Seumois, Gregory +5 more·2021·Nature Genetics

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1038/s41588-020-00745-3

Cites

13 of 13 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • We limited this analysis to SNPs within 50 Kb of miRNA genes to reduce confounding between distance to nearest gene and probability that a genomic region harbors a promoter.

    “We limited this analysis to SNPs within 50 Kb of miRNA genes because doing so reduces the potential effect of confounding between distance to nearest gene and probability that a genomic region harbors a promoter60.”

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Cites

Flagged first, then by citations

Research works printed but not linked: 34

  1. [1]MacArthur J The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog). Nucleic Acids Res. 45, D896– D901 (2017). 27899670 PMC5210590
  2. [2]International HapMap Consortium. A haplotype map of the human genome. Nature 437, 1299– 1320 (2005). 16255080 PMC1880871
  3. [4]Consortium GTEx. The genotype-tissue expression (GTEx) project. Nat. Genet 45, 580– 585 (2013). 23715323 PMC4010069
  4. [6]Keen JC & Moore HM The genotype-tissue expression (GTEx) project: linking clinical data with molecular analysis to advance personalized medicine. J. Pers. Med 5, 22– 29 (2015). 25809799 PMC4384056
  5. [9]Smemo S Obesity-associated variants within FTO form long-range functional connections with IRX3. Nature 507, 371– 375 (2014). 24646999 PMC4113484
  6. [11]Consortium EP An integrated encyclopedia of DNA elements in the human genome. Nature 489, 57– 74 (2012). 22955616 PMC3439153
  7. [13]Yao L, Berman BP & Farnham PJ Demystifying the secret mission of enhancers: linking distal regulatory elements to target genes. Crit. Rev. Biochem. Mol. Biol 50, 550– 573 (2015). 26446758 PMC4666684
  8. [15]Stadhouders R, Filion GJ & Graf T Transcription factors and 3D genome conformation in cell-fate decisions. Nature 569, 345– 354 (2019). 31092938
  9. [18]Bhattacharyya S, Chandra V, Vijayanand P & Ay F Identification of significant chromatin contacts from HiChIP data by FitHiChIP. Nat. Commun 10, 4221 (2019). 31530818 PMC6748947
  10. [19]Schoenfelder S, Javierre BM, Furlan-Magaril M, Wingett SW & Fraser P Promoter capture Hi-C: high-resolution, genome-wide profiling of promoter interactions. J. Vis. Exp 136, e57320 (2018). PMC6102006 30010637
  11. [20]Aguiar VRC, Cesar J, Delaneau O, Dermitzakis ET & Meyer D Expression estimation and eQTL mapping for HLA genes with a personalized pipeline. PLoS Genet. 15, e1008091 (2019). 31009447 PMC6497317
  12. [21]Ay F & Noble WS Analysis methods for studying the 3D architecture of the genome. Genome Biol. 16, 183 (2015). 26328929 PMC4556012
  13. [22]Dobbyn A Landscape of conditional eQTL in dorsolateral prefrontal cortex and co-localization with schizophrenia GWAS. Am. J. Hum. Genet 102, 1169– 1184 (2018). 29805045 PMC5993513
  14. [23]Consortium GT Genetic effects on gene expression across human tissues. Nature 550, 204– 213 (2017). 29022597 PMC5776756
  15. [25]Kalita CA High-throughput characterization of genetic effects on DNA–protein binding and gene transcription. Genome Res. 28, 1701– 1708 (2018). 30254052 PMC6211638
  16. [26]Benner C FINEMAP: efficient variable selection using summary data from genome-wide association studies. Bioinformatics 32, 1493– 1501 (2016). 26773131 PMC4866522
  17. [28]Litchfield K Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor. Nat. Genet 49, 1133– 1140 (2017). 28604728 PMC6016736
  18. [29]Wang Z Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor. Nat. Genet 49, 1141– 1147 (2017). 28604732 PMC5490654
  19. [30]Litchfield K Identification of four new susceptibility loci for testicular germ cell tumour. Nat. Commun 6, 8690 (2015). 26503584 PMC4846317
  20. [31]Smallwood A & Ren B Genome organization and long-range regulation of gene expression by enhancers. Curr. Opin. Cell Biol 25, 387– 394 (2013). 23465541 PMC4180870
  21. [32]Dao LTM Genome-wide characterization of mammalian promoters with distal enhancer functions. Nat. Genet 49, 1073– 1081 (2017). 28581502
  22. [34]Thormann V Genomic dissection of enhancers uncovers principles of combinatorial regulation and cell type-specific wiring of enhancer–promoter contacts. Nucleic Acids Res. 46, 2868– 2882 (2018). 29385519 PMC5888794
  23. [36]Kong A A high-resolution recombination map of the human genome. Nat. Genet 31, 241– 247 (2002). 12053178
  24. [37]Kong A Fine-scale recombination rate differences between sexes, populations and individuals. Nature 467, 1099– 1103 (2010). 20981099
  25. [38]Seumois G Epigenomic analysis of primary human T cells reveals enhancers associated with TH2 memory cell differentiation and asthma susceptibility. Nat. Immunol 15, 777– 788 (2014). 24997565 PMC4140783
  26. [39]Servant N HiC-Pro: an optimized and flexible pipeline for Hi-C data processing. Genome Biol. 16, 259 (2015). 26619908 PMC4665391
  27. [40]Langmead B & Salzberg SL Fast gapped-read alignment with Bowtie 2. Nat. Methods 9, 357– 359 (2012). 22388286 PMC3322381
  28. [41]Ay F, Bailey TL & Noble WS Statistical confidence estimation for Hi-C data reveals regulatory chromatin contacts. Genome Res. 24, 999– 1011 (2014). 24501021 PMC4032863
  29. [42]Heinz S Simple combinations of lineage-determining transcription factors prime cis-regulatory elements required for macrophage and B cell identities. Mol. Cell 38, 576– 589 (2010). 20513432 PMC2898526
  30. [43]Love MI, Huber W & Anders S Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2. Genome Biol. 15, 550 (2014). 25516281 PMC4302049
  31. [44]Ramos EM Phenotype–Genotype Integrator (PheGenI): synthesizing genome-wide association study (GWAS) data with existing genomic resources. Eur. J. Hum. Genet 22, 144– 147 (2014). 23695286 PMC3865418
  32. [45]Deng JE, Sham PC & Li MX SNPTracker: a swift tool for comprehensive tracking and unifying dbSNP rs IDs and genomic coordinates of massive sequence variants. G3 (Bethesda) 6, 205– 207 (2015). 26585827 PMC4704719
  33. [46]Purcell S PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet 81, 559– 575 (2007). 17701901 PMC1950838
  34. [47]1000 Genomes Project Consortium A global reference for human genetic variation. Nature 526, 68– 74 (2015). 26432245 PMC4750478

Cited by

Sorted by citations

Authors
Chandra, V., Bhattacharyya, S., Schmiedel, B. J., Madrigal, A., Gonzalez-Colin, C., Fotsing, S., Crinklaw, A., Seumois, G., Mohammadi, P., Kronenberg, M., Peters, B., Ay, F., & Vijayanand, P.
Venue
Nature Genetics
Published
2020-12-21
Volume
53
Issue
1
Pages
110-119
ISSN
  • 1061-4036
  • 1546-1718
Cited by
123
References
13
Language
en
Funders
  • U.S. Department of Health & Human Services | NIH | National Institute of Allergy and Infectious Diseases (R24-AI108564)
  • U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (R01-HL114093)
  • U.S. Department of Health & Human Services | NIH | National Institute of General Medical Sciences (R35-GM128938)
  • U.S. Department of Health & Human Services | NIH | National Center for Advancing Translational Sciences (UL1-TR002550)

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review