Evidence map›Paper›PMID 23990413›Full record

ArticleBioinformatics (Oxford, England)2013

DIST: direct imputation of summary statistics for unmeasured SNPs.

Donghyung Lee, T Bernard Bigdeli, Brien P Riley, Ayman H Fanous, Silviu-Alin Bacanu

Abstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
49citing papers in PubMed, 4 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

49 citing papers in PubMed, 4 syntheses or guidelines pooled it.

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  18. Increasing the resolution and precision of psychiatric genome-wide association studies by re-imputing summary statistics using a large, diverse reference panel.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2021
    Review
  19. TWAS pathway method greatly enhances the number of leads for uncovering the molecular underpinnings of psychiatric disorders.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2020
    Article
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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

5 authors.

Donghyung LeeDepartment of Psychiatry, Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University, Richmond, Virginia 23298, USA.
T Bernard Bigdeli
Brien P Riley
Ayman H Fanous
Silviu-Alin Bacanu

Funding

A genome-wide association study of schizophrenia in IrelandR01MH083094 · NIMH · VIRGINIA COMMONWEALTH UNIVERSITY · PI RILEY, BRIEN P · 2008 to 2011
$3.5M
Using novel eQTL-based methods to find the molecular causes of alcohol dependencyR21AA022717 · NIAAA · VIRGINIA COMMONWEALTH UNIVERSITY · PI BACANU, SILVIU-ALIN · 2014 to 2015
$382k
Using genetic overlap to dissect the genetic architecture of psychiatric diseasesR21MH100560 · NIMH · VIRGINIA COMMONWEALTH UNIVERSITY · PI BACANU, SILVIU-ALIN · 2014 to 2015
$358k
NIAAA NIH HHS R21 AA022717NIMH NIH HHS R01 MH083094NIMH NIH HHS R21 MH100560
6 · The paper itself

Abstract

motivationGenotype imputation methods are used to enhance the resolution of genome-wide association studies, and thus increase the detection rate for genetic signals. Although most studies report all univariate summary statistics, many of them limit the access to subject-level genotypes. Because such an access is required by all genotype imputation methods, it is helpful to develop methods that impute summary statistics without going through the interim step of imputing genotypes. Even when subject-level genotypes are available, due to the substantial computational cost of the typical genotype imputation, there is a need for faster imputation methods.

resultsDirect Imputation of summary STatistics (DIST) imputes the summary statistics of untyped variants without first imputing their subject-level genotypes. This is achieved by (i) using the conditional expectation formula for multivariate normal variates and (ii) using the correlation structure from a relevant reference population. When compared with genotype imputation methods, DIST (i) requires only a fraction of their computational resources, (ii) has comparable imputation accuracy for independent subjects and (iii) is readily applicable to the imputation of association statistics coming from large pedigree data. Thus, the proposed application is useful for a fast imputation of summary results for (i) studies of unrelated subjects, which (a) do not provide subject-level genotypes or (b) have a large size and (ii) family association studies. AVAILABILITY AND IMPLEMENTATION: Pre-compiled executables built under commonly used operating systems are publicly available at http://code.google.com/p/dist/. CONTACT: dlee4@vcu.edu .

Indexed as

Polymorphism, Single NucleotideSoftwareData Interpretation, StatisticalGenome, HumanGenotyping TechniquesHumans

Identifiers

PMID23990413
PMCPMC3810851

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LicenceCC BY
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Registered trials

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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.