Evidence map›Paper›PMID 23782512›Full record

ArticleBMC bioinformatics2013

SeqSIMLA: a sequence and phenotype simulation tool for complex disease studies.

Ren-Hua Chung, Chung-Chin Shih

Abstract read
In one paragraph

Article in BMC bioinformatics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed, 1 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

13 citing papers in PubMed, 1 synthesis or guideline pooled it.

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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

2 authors.

Ren-Hua ChungDivision of Biostatistics and Bioinformatics, Institute of Population Health Sciences, National Health Research Institutes, Zhunan, Miaoli, Taiwan. rchung@nhri.org.tw
Chung-Chin Shih

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAssociation studies based on next-generation sequencing (NGS) technology have become popular, and statistical association tests for NGS data have been developed rapidly. A flexible tool for simulating sequence data in either unrelated case-control or family samples with different disease and quantitative trait models would be useful for evaluating the statistical power for planning a study design and for comparing power among statistical methods based on NGS data.

resultsWe developed a simulation tool, SeqSIMLA, which can simulate sequence data with user-specified disease and quantitative trait models. We implemented two disease models, in which the user can flexibly specify the number of disease loci, effect sizes or population attributable risk, disease prevalence, and risk or protective loci. We also implemented a quantitative trait model, in which the user can specify the number of quantitative trait loci (QTL), proportions of variance explained by the QTL, and genetic models. We compiled recombination rates from the HapMap project so that genomic structures similar to the real data can be simulated.

conclusionsSeqSIMLA can efficiently simulate sequence data with disease or quantitative trait models specified by the user. SeqSIMLA will be very useful for evaluating statistical properties for new study designs and new statistical methods using NGS. SeqSIMLA can be downloaded for free at http://seqsimla.sourceforge.net.

Indexed as

PhenotypeSoftwareComputer SimulationData Interpretation, StatisticalDiseaseGenetic Association StudiesHigh-Throughput Nucleotide SequencingHumansModels, GeneticQuantitative Trait Loci

Identifiers

PMID23782512
PMCPMC3693898

What OpenQuestion holds

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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.