Evidence map›Paper›PMID 36515579›Full record

ArticleeLife2022

The missing link between genetic association and regulatory function.

Noah J Connally, Sumaiya Nazeen, Daniel Lee, Huwenbo Shi, John Stamatoyannopoulos, Sung Chun, Chris Cotsapas, Christopher A Cassa, Shamil R Sunyaev

Open access · goldAbstract read
In one paragraph

Article in eLife, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 104 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
104citing papers in PubMed, 2 pooled it
25.6field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

104 citing papers in PubMed, 2 syntheses or guidelines pooled it, 145 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Article
  5. Article
  6. Article
  7. Review
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Article

44 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 4 institutions in 1 country.

Noah J ConnallyDepartment of Biomedical Informatics, Harvard Medical School, Boston, United States.ORCID 0000-0003-3818-6739
Sumaiya NazeenDepartment of Biomedical Informatics, Harvard Medical School, Boston, United States.
Daniel LeeDepartment of Biomedical Informatics, Harvard Medical School, Boston, United States.
Huwenbo ShiProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, United States.
John StamatoyannopoulosAltius Institute, Seattle, United States.
Sung ChunDivision of Pulmonary Medicine, Boston Children's Hospital, Boston, United States.
Chris CotsapasProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, United States.
Christopher A CassaBrigham and Women's Hospital, Division of Genetics, Harvard Medical School, Boston, United States.
Shamil R SunyaevDepartment of Biomedical Informatics, Harvard Medical School, Boston, United States.ORCID 0000-0001-5715-5677
Broad Institute · USAltius Institute for Biomedical Sciences · USBoston Children's Hospital · USBrigham and Women's Hospital · US

Funding

Statistical methods for studies of rare variantsR01MH101244 · NIMH · HARVARD MEDICAL SCHOOL · PI Benjamin Michael Neale, ALKES L PRICE · 2013 to 2026
$9.4M
The origin, the function and the phenotypic impact of human allelesR35GM127131 · NIGMS · HARVARD MEDICAL SCHOOL · PI SHAMIL SUNYAEV · 2018 to 2026
$8.1M
Powering whole genome sequence-based genetic discovery for common human diseases- Extended 2021-2022.U01HG009088 · NHGRI · HARVARD SCHOOL OF PUBLIC HEALTH · PI LIN, XIHONG, NEALE, BENJAMIN MICHAEL · 2016 to 2021
$5.1M
Predicting the impact of genetic variants, genes and pathways on human DiseaseU01HG012009 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI ALKES L PRICE, Soumya Raychaudhuri · 2021 to 2026
$4.2M
Joint Interdisciplinary Training Program in Biostatistics & Computational BiologyT32GM074897 · NIGMS · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI HUTTENHOWER, CURTIS, LIN, XIHONG · 2005 to 2019
$3.7M
Integrated pathogenicity assessment of clinically actionable genetic variantsR01HG010372 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI CASSA, CHRISTOPHER · 2018 to 2022
$3.5M
Medical Research Council MC_PC_17228NHGRI NIH HHS R01 HG010372NHGRI NIH HHS U01 HG009088NHGRI NIH HHS U01 HG012009NIGMS NIH HHS R35 GM127131NIGMS NIH HHS T32 GM074897NIMH NIH HHS R01 MH101244
6 · The paper itself

Abstract

The genetic basis of most traits is highly polygenic and dominated by non-coding alleles. It is widely assumed that such alleles exert small regulatory effects on the expression of

Indexed as

Genome-Wide Association StudyQuantitative Trait LociEpigenomicsGenetic Predisposition to DiseaseHumansMultifactorial InheritancePhenotypePolymorphism, Single NucleotidecolocalizationeQTLgene regulationgeneticsgenomicshumannon-coding variants

Identifiers

PMID36515579
PMCPMC9842386
OpenAlexW4311474872

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.