Evidence map›Paper›PMID 27312886›Full record

ArticleGenetic epidemiology2016

Family-Based Rare Variant Association Analysis: A Fast and Efficient Method of Multivariate Phenotype Association Analysis.

Longfei Wang, Sungyoung Lee, Jungsoo Gim, Dandi Qiao, Michael Cho, Robert C Elston, Edwin K Silverman, Sungho Won

Abstract readComment
In one paragraph

Article in Genetic epidemiology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.8field-weighted citation impact, top 13% 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

9 citing papers in PubMed, 13 citations in OpenAlex.

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  4. Definition and Nomenclature of Chronic Obstructive Pulmonary Disease: Time for Its Revision.American journal of respiratory and critical care medicine · 2022
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

8 authors at 4 institutions in 2 countries.

Longfei WangInterdisciplinary Program in Bioinformatics, Seoul National University, Seoul, Korea.
Sungyoung LeeInterdisciplinary Program in Bioinformatics, Seoul National University, Seoul, Korea.
Jungsoo GimInstitute of Health and Environment, Seoul National University, Seoul, Korea.
Dandi QiaoChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.
Michael ChoChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.
Robert C ElstonDepartment of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, United States of America.
Edwin K SilvermanChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.
Sungho WonInterdisciplinary Program in Bioinformatics, Seoul National University, Seoul, Korea.
Seoul National University · KRBrigham and Women's Hospital · USCase Western Reserve University · USHarvard University · US

Funding

UW Center for Mendelian GenomicsU54HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, NICKERSON, DEBORAH A · 2012 to 2015
$20.0M
UW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3M
Systems Biology, Bioinformatics, and BiostatisticsP01HL105339 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI SILVERMAN, EDWIN K · 2011 to 2015
$12.2M
Fine Mapping of COPD Susceptibility GenesR01HL075478 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI SILVERMAN, EDWIN K · 2004 to 2012
$6.4M
Identifying Genetic Determinants of Severe, Early-Onset COPDR01HL113264 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI CHO, MICHAEL H., SILVERMAN, EDWIN K · 2012 to 2016
$6.0M
Network-based Methods for Understanding Genetic Determinants and Epistasis in COPDK01HL129039 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI QIAO, DANDI · 2015 to 2019
$844k
NHGRI NIH HHS U54 HG006493NHGRI NIH HHS UM1 HG006493NHLBI NIH HHS K01 HL129039NHLBI NIH HHS P01 HL105339NHLBI NIH HHS R01 HL075478NHLBI NIH HHS R01 HL113264
6 · The paper itself

Abstract

Family-based designs have been repeatedly shown to be powerful in detecting the significant rare variants associated with human diseases. Furthermore, human diseases are often defined by the outcomes of multiple phenotypes, and thus we expect multivariate family-based analyses may be very efficient in detecting associations with rare variants. However, few statistical methods implementing this strategy have been developed for family-based designs. In this report, we describe one such implementation: the multivariate family-based rare variant association tool (mFARVAT). mFARVAT is a quasi-likelihood-based score test for rare variant association analysis with multiple phenotypes, and tests both homogeneous and heterogeneous effects of each variant on multiple phenotypes. Simulation results show that the proposed method is generally robust and efficient for various disease models, and we identify some promising candidate genes associated with chronic obstructive pulmonary disease. The software of mFARVAT is freely available at http://healthstat.snu.ac.kr/software/mfarvat/, implemented in C++ and supported on Linux and MS Windows.

Indexed as

Genetic VariationModels, GeneticComputer SimulationGenetic Association StudiesHumansLikelihood FunctionsPhenotypeassociation analysisfamily-based designmultivariate phenotypesrare variants

Identifiers

PMID27312886
PMCPMC4981535
OpenAlexW2440928255

What OpenQuestion holds

Textmetadata
LicenceTDM
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.