FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2090307617> ?p ?o ?g. }

• W2090307617 endingPage "495" @default.
• W2090307617 startingPage "487" @default.
• W2090307617 abstract "Gene-mapping studies routinely rely on checking for Mendelian transmission of marker alleles in a pedigree, as a means of screening for genotyping errors and mutations, with the implicit assumption that, if a pedigree is consistent with Mendel’s laws of inheritance, then there are no genotyping errors. However, the occurrence of inheritance inconsistencies alone is an inadequate measure of the number of genotyping errors, since the rate of occurrence depends on the number and relationships of genotyped pedigree members, the type of errors, and the distribution of marker-allele frequencies. In this article, we calculate the expected probability of detection of a genotyping error or mutation as an inheritance inconsistency in nuclear-family data, as a function of both the number of genotyped parents and offspring and the marker-allele frequency distribution. Through computer simulation, we explore the sensitivity of our analytic calculations to the underlying error model. Under a random-allele–error model, we find that detection rates are 51%–77% for multiallelic markers and 13%–75% for biallelic markers; detection rates are generally lower when the error occurs in a parent than in an offspring, unless a large number of offspring are genotyped. Errors are especially difficult to detect for biallelic markers with equally frequent alleles, even when both parents are genotyped; in this case, the maximum detection rate is 34% for four-person nuclear families. Error detection in families in which parents are not genotyped is limited, even with multiallelic markers. Given these results, we recommend that additional error checking (e.g., on the basis of multipoint analysis) be performed, beyond routine checking for Mendelian consistency. Furthermore, our results permit assessment of the plausibility of an observed number of inheritance inconsistencies for a family, allowing the detection of likely pedigree—rather than genotyping—errors in the early stages of a genome scan. Such early assessments are valuable in either the targeting of families for resampling or discontinued genotyping. Gene-mapping studies routinely rely on checking for Mendelian transmission of marker alleles in a pedigree, as a means of screening for genotyping errors and mutations, with the implicit assumption that, if a pedigree is consistent with Mendel’s laws of inheritance, then there are no genotyping errors. However, the occurrence of inheritance inconsistencies alone is an inadequate measure of the number of genotyping errors, since the rate of occurrence depends on the number and relationships of genotyped pedigree members, the type of errors, and the distribution of marker-allele frequencies. In this article, we calculate the expected probability of detection of a genotyping error or mutation as an inheritance inconsistency in nuclear-family data, as a function of both the number of genotyped parents and offspring and the marker-allele frequency distribution. Through computer simulation, we explore the sensitivity of our analytic calculations to the underlying error model. Under a random-allele–error model, we find that detection rates are 51%–77% for multiallelic markers and 13%–75% for biallelic markers; detection rates are generally lower when the error occurs in a parent than in an offspring, unless a large number of offspring are genotyped. Errors are especially difficult to detect for biallelic markers with equally frequent alleles, even when both parents are genotyped; in this case, the maximum detection rate is 34% for four-person nuclear families. Error detection in families in which parents are not genotyped is limited, even with multiallelic markers. Given these results, we recommend that additional error checking (e.g., on the basis of multipoint analysis) be performed, beyond routine checking for Mendelian consistency. Furthermore, our results permit assessment of the plausibility of an observed number of inheritance inconsistencies for a family, allowing the detection of likely pedigree—rather than genotyping—errors in the early stages of a genome scan. Such early assessments are valuable in either the targeting of families for resampling or discontinued genotyping." @default.
• W2090307617 created "2016-06-24" @default.
• W2090307617 creator A5035624440 @default.
• W2090307617 creator A5053278031 @default.
• W2090307617 creator A5059450341 @default.
• W2090307617 date "2002-02-01" @default.
• W2090307617 modified "2023-10-13" @default.
• W2090307617 title "Probability of Detection of Genotyping Errors and Mutations as Inheritance Inconsistencies in Nuclear-Family Data" @default.
• W2090307617 cites W1489178135 @default.
• W2090307617 cites W1511546866 @default.
• W2090307617 cites W1564882462 @default.
• W2090307617 cites W1969686412 @default.
• W2090307617 cites W2031296193 @default.
• W2090307617 cites W2033299205 @default.
• W2090307617 cites W2039057792 @default.
• W2090307617 cites W2041746316 @default.
• W2090307617 cites W2072038834 @default.
• W2090307617 cites W2075330092 @default.
• W2090307617 cites W2112066577 @default.
• W2090307617 cites W2133291901 @default.
• W2090307617 cites W2164819761 @default.
• W2090307617 cites W2170009526 @default.
• W2090307617 cites W4229662990 @default.
• W2090307617 cites W2078645929 @default.
• W2090307617 doi "https://doi.org/10.1086/338919" @default.
• W2090307617 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/419989" @default.
• W2090307617 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11791214" @default.
• W2090307617 hasPublicationYear "2002" @default.
• W2090307617 type Work @default.
• W2090307617 sameAs 2090307617 @default.
• W2090307617 citedByCount "139" @default.
• W2090307617 countsByYear W20903076172012 @default.
• W2090307617 countsByYear W20903076172013 @default.
• W2090307617 countsByYear W20903076172014 @default.
• W2090307617 countsByYear W20903076172015 @default.
• W2090307617 countsByYear W20903076172016 @default.
• W2090307617 countsByYear W20903076172017 @default.
• W2090307617 countsByYear W20903076172018 @default.
• W2090307617 countsByYear W20903076172019 @default.
• W2090307617 countsByYear W20903076172020 @default.
• W2090307617 countsByYear W20903076172021 @default.
• W2090307617 countsByYear W20903076172022 @default.
• W2090307617 countsByYear W20903076172023 @default.
• W2090307617 crossrefType "journal-article" @default.
• W2090307617 hasAuthorship W2090307617A5035624440 @default.
• W2090307617 hasAuthorship W2090307617A5053278031 @default.
• W2090307617 hasAuthorship W2090307617A5059450341 @default.
• W2090307617 hasBestOaLocation W20903076171 @default.
• W2090307617 hasConcept C104317684 @default.
• W2090307617 hasConcept C112672928 @default.
• W2090307617 hasConcept C135763542 @default.
• W2090307617 hasConcept C144024400 @default.
• W2090307617 hasConcept C175783326 @default.
• W2090307617 hasConcept C180754005 @default.
• W2090307617 hasConcept C19165224 @default.
• W2090307617 hasConcept C2779234561 @default.
• W2090307617 hasConcept C31467283 @default.
• W2090307617 hasConcept C54355233 @default.
• W2090307617 hasConcept C68220480 @default.
• W2090307617 hasConcept C86803240 @default.
• W2090307617 hasConceptScore W2090307617C104317684 @default.
• W2090307617 hasConceptScore W2090307617C112672928 @default.
• W2090307617 hasConceptScore W2090307617C135763542 @default.
• W2090307617 hasConceptScore W2090307617C144024400 @default.
• W2090307617 hasConceptScore W2090307617C175783326 @default.
• W2090307617 hasConceptScore W2090307617C180754005 @default.
• W2090307617 hasConceptScore W2090307617C19165224 @default.
• W2090307617 hasConceptScore W2090307617C2779234561 @default.
• W2090307617 hasConceptScore W2090307617C31467283 @default.
• W2090307617 hasConceptScore W2090307617C54355233 @default.
• W2090307617 hasConceptScore W2090307617C68220480 @default.
• W2090307617 hasConceptScore W2090307617C86803240 @default.
• W2090307617 hasIssue "2" @default.
• W2090307617 hasLocation W20903076171 @default.
• W2090307617 hasLocation W20903076172 @default.
• W2090307617 hasLocation W20903076173 @default.
• W2090307617 hasLocation W20903076174 @default.
• W2090307617 hasLocation W20903076175 @default.
• W2090307617 hasOpenAccess W2090307617 @default.
• W2090307617 hasPrimaryLocation W20903076171 @default.
• W2090307617 hasRelatedWork W1980117820 @default.
• W2090307617 hasRelatedWork W1982821560 @default.
• W2090307617 hasRelatedWork W1996322489 @default.
• W2090307617 hasRelatedWork W2016258313 @default.
• W2090307617 hasRelatedWork W2105558110 @default.
• W2090307617 hasRelatedWork W2120856465 @default.
• W2090307617 hasRelatedWork W2133577258 @default.
• W2090307617 hasRelatedWork W2496469184 @default.
• W2090307617 hasRelatedWork W4237091814 @default.
• W2090307617 hasRelatedWork W1976153842 @default.
• W2090307617 hasVolume "70" @default.
• W2090307617 isParatext "false" @default.
• W2090307617 isRetracted "false" @default.
• W2090307617 magId "2090307617" @default.
• W2090307617 workType "article" @default.