Hardy-Weinberg equilibrium revisited for inferences on genotypes featuring allele and copy-number variations.

Andreas Recke, Klaus-Günther Recke, Saleh Ibrahim, Steffen Möller, Reinhard Vonthein

Abstract read

In one paragraph

Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it

0cells of the map it votes in

2citing 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

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

2 citing papers in PubMed.

Status quo and future developments in the diagnosis and treatment of hereditary angioedema.Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG · 2025
Review
The transitivity of the Hardy-Weinberg law.Forensic science international. Genetics · 2022
Article

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

5 authors.

Andreas Recke1] Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany [2] Department of Dermatology, Allergology and Venereology, University of Lübeck, Lübeck, Germany.

Klaus-Günther ReckeLübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.

Saleh IbrahimLübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.

Steffen MöllerLübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.

Reinhard Vonthein1] Institute of Medical Biometry and Statistics, University of Lübeck, Lübeck, Germany [2] Center for Clinical Studies, University of Lübeck, Lübeck, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Copy number variations represent a substantial source of genetic variation and are associated with a plethora of physiological and pathophysiological conditions. Joint copy number and allelic variations (CNAVs) are difficult to analyze and require new strategies to unravel the properties of genotype distributions. We developed a Bayesian hidden Markov model (HMM) approach that allows dissecting intrinsic properties and metastructures of the distribution of CNAVs within populations, in particular haplotype phases of genes with varying copy numbers. As a key feature, this approach incorporates an extension of the Hardy-Weinberg equilibrium, allowing both a comprehensive and parsimonious model design. We demonstrate the quality of performance and applicability of the HMM approach with a real data set describing the Fcγ receptor (FcγR) gene region. Our concept, using a dynamic process to analyze a static distribution, establishes the basis for a novel understanding of complex genomic data sets.

Indexed as

AllelesDNA Copy Number VariationsGenetic LinkageGenotypeAnimalsBayes TheoremGenetic VariationHaplotypesHumansLinkage DisequilibriumMarkov ChainsModels, GeneticModels, StatisticalPolymorphism, Single NucleotideReceptors, IgGReceptors, IgG

Identifiers

PMID25765626

DOI10.1038/srep09066

PMCPMC4357990

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LicenceCC BY

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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.