Evidence map›Paper›PMID 30956231›Full record

ArticleStatistical applications in genetics and molecular biology2019

Data-adaptive multi-locus association testing in subjects with arbitrary genealogical relationships.

Gail Gong, Wei Wang, Chih-Lin Hsieh, David J Van Den Berg, Christopher Haiman, Ingrid Oakley-Girvan, Alice S Whittemore

Open access · greenAbstract read
In one paragraph

Article in Statistical applications in genetics and molecular biology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 38% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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

7 authors at 3 institutions in 1 country.

Gail GongDepartment of Health Research and Policy, Stanford University School of Medicine, Stanford, CA 94305, USA.
Wei WangDepartment of Health Research and Policy, Stanford University School of Medicine, Stanford, CA 94305, USA.
Chih-Lin HsiehDepartment of Urology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
David J Van Den BergDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Christopher HaimanDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Ingrid Oakley-GirvanPublic Health Institute, Oakland, CA, USA.
Alice S WhittemoreDepartment of Health Research and Policy, Stanford University School of Medicine, Stanford, CA 94305, USA.
Stanford University · USUniversity of Southern California · USPublic Health Institute · US

Funding

Statistical Methods for Genetic EpidemiologyR01CA094069 · NCI · STANFORD UNIVERSITY · PI WHITTEMORE, ALICE · 2002 to 2016
$7.7M
Bootstrap-based testing of rare sequence variants using family dataR01CA179011 · NCI · STANFORD UNIVERSITY · PI WHITTEMORE, ALICE · 2013 to 2015
$968k
NCI NIH HHS R01 CA094069NCI NIH HHS R01 CA179011
6 · The paper itself

Abstract

Genome-wide sequencing enables evaluation of associations between traits and combinations of variants in genes and pathways. But such evaluation requires multi-locus association tests with good power, regardless of the variant and trait characteristics. And since analyzing families may yield more power than analyzing unrelated individuals, we need multi-locus tests applicable to both related and unrelated individuals. Here we describe such tests, and we introduce SKAT-X, a new test statistic that uses genome-wide data obtained from related or unrelated subjects to optimize power for the specific data at hand. Simulations show that: a) SKAT-X performs well regardless of variant and trait characteristics; and b) for binary traits, analyzing affected relatives brings more power than analyzing unrelated individuals, consistent with previous findings for single-locus tests. We illustrate the methods by application to rare unclassified missense variants in the tumor suppressor gene BRCA2, as applied to combined data from prostate cancer families and unrelated prostate cancer cases and controls in the Multi-ethnic Cohort (MEC). The methods can be implemented using open-source code for public use as the R-package GATARS (Genetic Association Tests for Arbitrarily Related Subjects) <https://gailg.github.io/gatars/>.

Indexed as

Genetic TestingSoftwareComputer SimulationGenetic Association StudiesGenetic VariationGenome-Wide Association StudyHumansModels, GeneticPhenotypePolymorphism, Single Nucleotidedata-adaptive testsmulti-locus kernel testsrelated subjects

Identifiers

PMID30956231
PMCPMC7745991
OpenAlexW2938932474

What Socratic holds

Textmetadata
LicenceTDM
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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 Socratic graph.