Evidence map›Paper›PMID 18005446›Full record

ArticleBMC bioinformatics2007

PedGenie: meta genetic association testing in mixed family and case-control designs.

Karen Curtin, Jathine Wong, Kristina Allen-Brady, Nicola J Camp

Abstract read
In one paragraph

Article in BMC bioinformatics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 3 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

16 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Fine-mapping CASP8 risk variants in breast cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2012
    Pooled it
  2. Pooled it
  3. Genetic variants in XRCC2: new insights into colorectal cancer tumorigenesis.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2009
    Pooled it
  4. Article
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  10. Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2009
    Article
  11. Replication of the 10q11 and Xp11 prostate cancer risk variants: results from a Utah pedigree-based study.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2009
    Article
  12. Article
  13. Meta association of colorectal cancer confirms risk alleles at 8q24 and 18q21.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2009
    Article
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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

4 authors.

Karen CurtinDepartment of Biomedical Informatics, University of Utah, Salt Lake City, UT 84108, USA. karen.curtin@hsc.utah.edu
Jathine Wong
Kristina Allen-Brady
Nicola J Camp

Funding

GENETIC ANALYSIS TECHNIQUES FOR COMMON CANCERSK07CA098364 · NCI · UNIVERSITY OF UTAH · PI CAMP, NICOLA J. · 2004 to 2008
$701k
Transferability of Tagging-SNPs across disease status: colon cancer and XRCC2R03CA123550 · NCI · UNIVERSITY OF UTAH · PI CAMP, NICOLA J. · 2006 to 2007
$147k
NCI NIH HHS CA098364-01NCI NIH HHS CA123550-01NCI NIH HHS K07 CA098364NCI NIH HHS R03 CA123550
6 · The paper itself

Abstract

backgroundPedGenie software, introduced in 2006, includes genetic association testing of cases and controls that may be independent or related (nuclear families or extended pedigrees) or mixtures thereof using Monte Carlo significance testing. Our aim is to demonstrate that PedGenie, a unique and flexible analysis tool freely available in Genie 2.4 software, is significantly enhanced by incorporating meta statistics for detecting genetic association with disease using data across multiple study groups.

methodsMeta statistics (chi-squared tests, odds ratios, and confidence intervals) were calculated using formal Cochran-Mantel-Haenszel techniques. Simulated data from unrelated individuals and individuals in families were used to illustrate meta tests and their empirically-derived p-values and confidence intervals are accurate, precise, and for independent designs match those provided by standard statistical software.

resultsPedGenie yields accurate Monte Carlo p-values for meta analysis of data across multiple studies, based on validation testing using pedigree, nuclear family, and case-control data simulated under both the null and alternative hypotheses of a genotype-phenotype association.

conclusionPedGenie allows valid combined analysis of data from mixtures of pedigree-based and case-control resources. Added meta capabilities provide new avenues for association analysis, including pedigree resources from large consortia and multi-center studies.

Indexed as

Case-Control StudiesMeta-Analysis as TopicPedigreeSoftwareChi-Square DistributionConfidence IntervalsFamilyGenetic LinkageGenetic TestingGenotypeHumansLikelihood FunctionsModels, GeneticOdds RatioPhenotypePredictive Value of Tests

Identifiers

PMID18005446
PMCPMC2200673

What OpenQuestion holds

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LicenceCC BY
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.