Evidence map›Paper›PMID 35143757›Full record

ArticleAmerican journal of human genetics2022

Partitioning gene-mediated disease heritability without eQTLs.

Daniel J Weiner, Steven Gazal, Elise B Robinson, Luke J O'Connor

Open access · greenAbstract read
In one paragraph

Article in American journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
3.0field-weighted citation impact, top 9% 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

13 citing papers in PubMed, 17 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
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

4 authors at 1 institution in 1 country.

Daniel J WeinerStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address: dweiner@broadinstitute.org.
Steven GazalProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Harvard T.H. Chan School of Public Health, Harvard University, Boston, MA 02115, USA; Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Elise B RobinsonStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Harvard T.H. Chan School of Public Health, Harvard University, Boston, MA 02115, USA.
Luke J O'ConnorProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address: loconnor@broadinstitute.org.
Broad Institute · US

Funding

RESEARCH TRAINING-MEDICAL INFORMATICS 90T15LM007092 · NLM · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI Nils Gehlenborg · 1992 to 2026
$32.8M
Training Program in Bioinformatics and Integrative GenomicsT32HG002295 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI Peter J Park · 2001 to 2026
$15.8M
From common to rare variant functional architectures of human diseasesR00HG010160 · NHGRI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI GAZAL, STEVEN · 2020 to 2022
$727k
Integrating common and rare genetic variation in autism spectrum disorderF30MH129009 · NIMH · HARVARD MEDICAL SCHOOL · PI WEINER, DANIEL · 2022 to 2024
$112k
NHGRI NIH HHS R00 HG010160NHGRI NIH HHS T32 HG002295NIMH NIH HHS F30 MH129009NLM NIH HHS T15 LM007092
6 · The paper itself

Abstract

Unknown SNP-to-gene regulatory architecture complicates efforts to link noncoding GWAS associations with genes implicated by sequencing or functional studies. eQTLs are often used to link SNPs to genes, but expression in bulk tissue explains a small fraction of disease heritability. A simple but successful approach has been to link SNPs with nearby genes via base pair windows, but genes may often be regulated by SNPs outside their window. We propose the abstract mediation model (AMM) to estimate (1) the fraction of heritability mediated by the closest or k

Indexed as

Genome-Wide Association StudyPolymorphism, Single NucleotideGene Expression RegulationHumansPhenotypeeQTLsGWASheritabilitySNP-to-gene architecture

Identifiers

PMID35143757
PMCPMC8948166
OpenAlexW4225308094

What Socratic holds

Textmetadata
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 Socratic graph.