Evidence map›Paper›PMID 31329242›Full record

ArticleBioinformatics (Oxford, England)2019

Genetic association testing using the GENESIS R/Bioconductor package.

Stephanie M Gogarten, Tamar Sofer, Han Chen, Chaoyu Yu, Jennifer A Brody, Timothy A Thornton, Kenneth M Rice, Matthew P Conomos

Abstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 312 papers, 13 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
312citing papers in PubMed, 13 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

312 citing papers in PubMed, 13 syntheses or guidelines pooled it.

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  4. Multiancestry Transcriptome-Wide Association Study Identifies Candidate Genes Associated with Hepatoblastoma.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2025
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  14. Article
  15. Novel genetic profile linked to cognitive decline in Hispanics/Latinos.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026
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  19. Overlapping genetic etiology of pediatric and adult germ cell tumors.Journal of the National Cancer Institute · 2026
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252 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

8 authors.

Stephanie M GogartenDepartment of Biostatistics, University of Washington, Seattle, WA, USA.
Tamar SoferDivision of Sleep and Circadian Disorders, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Han ChenHuman Genetics Center, Department of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.
Chaoyu YuDepartment of Biostatistics, University of Washington, Seattle, WA, USA.
Jennifer A BrodyCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA.
Timothy A ThorntonDepartment of Biostatistics, University of Washington, Seattle, WA, USA.
Kenneth M RiceDepartment of Biostatistics, University of Washington, Seattle, WA, USA.
Matthew P ConomosDepartment of Biostatistics, University of Washington, Seattle, WA, USA.

Funding

Rare variants and NHLBI traits in deeply phenotyped cohortsR01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2014 to 2016
$8.9M
From gene regions to whole chromosomes: scaling up association-finding for disease and omics outcomes in TOPMedU01HL137162 · NHLBI · UNIVERSITY OF WASHINGTON · PI RICE, KENNETH M. · 2017 to 2019
$1.6M
NHLBI NIH HHS R01 HL120393NHLBI NIH HHS U01 HL137162
6 · The paper itself

Abstract

summaryThe Genomic Data Storage (GDS) format provides efficient storage and retrieval of genotypes measured by microarrays and sequencing. We developed GENESIS to perform various single- and aggregate-variant association tests using genotype data stored in GDS format. GENESIS implements highly flexible mixed models, allowing for different link functions, multiple variance components and phenotypic heteroskedasticity. GENESIS integrates cohesively with other R/Bioconductor packages to build a complete genomic analysis workflow entirely within the R environment. AVAILABILITY AND IMPLEMENTATION: https://bioconductor.org/packages/GENESIS; vignettes included. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Indexed as

GenomicsSoftwareGenetic TestingGenomeSequence Analysis

Identifiers

PMID31329242
PMCPMC7904076

What OpenQuestion 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 OpenQuestion graph.