Evidence map›Paper›PMID 28187711›Full record

ArticleBMC genomics2017

PopPAnTe: population and pedigree association testing for quantitative data.

Alessia Visconti, Mashael Al-Shafai, Wadha A Al Muftah, Shaza B Zaghlool, Massimo Mangino, Karsten Suhre, Mario Falchi

Abstract read
In one paragraph

Article in BMC genomics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

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

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3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

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4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

7 authors.

Alessia ViscontiDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK. alessia.visconti@kcl.ac.uk.ORCID 0000-0003-4144-2019
Mashael Al-ShafaiDepartment of Genomics of Common Diseases, Imperial College London, London, UK.
Wadha A Al MuftahDepartment of Genomics of Common Diseases, Imperial College London, London, UK.
Shaza B ZaghloolDepartment of Physiology and Biophysics, Weill Cornell Medical College in Qatar, Doha, Qatar.
Massimo ManginoDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Karsten SuhreDepartment of Physiology and Biophysics, Weill Cornell Medical College in Qatar, Doha, Qatar.
Mario FalchiDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.

Funding

Medical Research Council MR/K01353X/1Medical Research Council MR/K01353X/2
6 · The paper itself

Abstract

backgroundFamily-based designs, from twin studies to isolated populations with their complex genealogical data, are a valuable resource for genetic studies of heritable molecular biomarkers. Existing software for family-based studies have mainly focused on facilitating association between response phenotypes and genetic markers, and no user-friendly tools are at present available to straightforwardly extend association studies in related samples to large datasets of generic quantitative data, as those generated by current -omics technologies.

resultsWe developed PopPAnTe, a user-friendly Java program, which evaluates the association of quantitative data in related samples. Additionally, PopPAnTe implements data pre and post processing, region based testing, and empirical assessment of associations.

conclusionsPopPAnTe is an integrated and flexible framework for pairwise association testing in related samples with a large number of predictors and response variables. It works either with family data of any size and complexity, or, when the genealogical information is unknown, it uses genetic similarity information between individuals as those inferred from genome-wide genetic data. It can therefore be particularly useful in facilitating usage of biobank data collections from population isolates when extensive genealogical information is missing.

Indexed as

PedigreeSoftwareEpigenesis, GeneticFemaleGene Expression ProfilingGenetics, PopulationGenomicsHumansMaleTwinsAssociation studiesFamily dataHeritabilityIsolated population-omics dataPopulation genetics

Identifiers

PMID28187711
PMCPMC5303218

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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.