Evidence map›Paper›PMID 23346356›Full record

ArticleScientific reports2013

An exhaustive epistatic SNP association analysis on expanded Wellcome Trust data.

Christoph Lippert, Jennifer Listgarten, Robert I Davidson, Scott Baxter, Hoifung Poon, Hoifung Poong, Carl M Kadie, David Heckerman

Erratum issuedAbstract read
In one paragraph

Article in Scientific reports, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 38 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
38citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

38 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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  6. Knowledge-Driven Feature Selection and Engineering for Genotype Data with Large Language Models.AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science · 2025
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4 · The record

Corrections and comments

  • Erratum issued
    Poong, Hoifung [corrected to Poon, Hoifung]
5 · Who and what money

Authors and funding

8 authors.

Christoph LippertMicrosoft Research, Los Angeles, CA, USA. lippert@microsoft.com
Jennifer Listgarten
Robert I Davidson
Scott Baxter
Hoifung Poon
Hoifung Poong
Carl M Kadie
David Heckerman

Funding

Wellcome TrustWellcome Trust 076113Wellcome Trust 085475
6 · The paper itself

Abstract

We present an approach for genome-wide association analysis with improved power on the Wellcome Trust data consisting of seven common phenotypes and shared controls. We achieved improved power by expanding the control set to include other disease cohorts, multiple races, and closely related individuals. Within this setting, we conducted exhaustive univariate and epistatic interaction association analyses. Use of the expanded control set identified more known associations with Crohn's disease and potential new biology, including several plausible epistatic interactions in several diseases. Our work suggests that carefully combining data from large repositories could reveal many new biological insights through increased power. As a community resource, all results have been made available through an interactive web server.

Indexed as

Genetic Predisposition to DiseasePolymorphism, Single NucleotideCohort StudiesCrohn DiseaseData Interpretation, StatisticalEpistasis, GeneticGenome-Wide Association StudyHumansPhenotype

Identifiers

PMID23346356
PMCPMC3551227

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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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.