Evidence map›Paper›PMID 21988752›Full record

ArticleGenetics, selection, evolution : GSE2011

Identification of Mendelian inconsistencies between SNP and pedigree information of sibs.

Mario P L Calus, Han A Mulder, John W M Bastiaansen

Abstract read
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Article in Genetics, selection, evolution : GSE, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

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16citing papers in PubMed
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1 · What the graph read from it

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3 · Its place in the literature

Who cites it

16 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

3 authors.

Mario P L CalusAnimal Breeding and Genomics Centre, Wageningen UR Livestock Research, 8200 AB Lelystad, The Netherlands. mario.calus@wur.nl
Han A Mulder
John W M Bastiaansen

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundUsing SNP genotypes to apply genomic selection in breeding programs is becoming common practice. Tools to edit and check the quality of genotype data are required. Checking for Mendelian inconsistencies makes it possible to identify animals for which pedigree information and genotype information are not in agreement.

methodsStraightforward tests to detect Mendelian inconsistencies exist that count the number of opposing homozygous marker (e.g. SNP) genotypes between parent and offspring (PAR-OFF). Here, we develop two tests to identify Mendelian inconsistencies between sibs. The first test counts SNP with opposing homozygous genotypes between sib pairs (SIBCOUNT). The second test compares pedigree and SNP-based relationships (SIBREL). All tests iteratively remove animals based on decreasing numbers of inconsistent parents and offspring or sibs. The PAR-OFF test, followed by either SIB test, was applied to a dataset comprising 2,078 genotyped cows and 211 genotyped sires. Theoretical expectations for distributions of test statistics of all three tests were calculated and compared to empirically derived values. Type I and II error rates were calculated after applying the tests to the edited data, while Mendelian inconsistencies were introduced by permuting pedigree against genotype data for various proportions of animals.

resultsBoth SIB tests identified animal pairs for which pedigree and genomic relationships could be considered as inconsistent by visual inspection of a scatter plot of pairwise pedigree and SNP-based relationships. After removal of 235 animals with the PAR-OFF test, SIBCOUNT (SIBREL) identified 18 (22) additional inconsistent animals.Seventeen animals were identified by both methods. The numbers of incorrectly deleted animals (Type I error), were equally low for both methods, while the numbers of incorrectly non-deleted animals (Type II error), were considerably higher for SIBREL compared to SIBCOUNT.

conclusionsTests to remove Mendelian inconsistencies between sibs should be preceded by a test for parent-offspring inconsistencies. This parent-offspring test should not only consider parent-offspring pairs based on pedigree data, but also those based on SNP information. Both SIB tests could identify pairs of sibs with Mendelian inconsistencies. Based on type I and II error rates, counting opposing homozygotes between sibs (SIBCOUNT) appears slightly more precise than comparing genomic and pedigree relationships (SIBREL) to detect Mendelian inconsistencies between sibs.

Indexed as

Polymorphism, Single NucleotideAlgorithmsAnimalsCattleFemaleGenotypeHeredityHomozygoteMaleModels, GeneticPedigreeSiblings

Identifiers

PMID21988752
PMCPMC3377921

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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.