Estimation of segregation and linkage parameters in simulated data. I. Segregation analyses with different ascertainment schemes

P. L. Kramer, D. L. Pauls, R. A. Price, K. K. Kidd

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

We report the results of a simulation study designed to assess the capability of segregation analysis to detect Mendelian transmission and to estimate genetic model parameters for complex qualitative traits, characterized by heritability in the range 0.20-0.45 and low heterozygote penetrance. The pedigree analysis package, PAP, was used to perform the analyses. For all data sets, models of no transmission could be rejected. In most cases, models of Mendelian transmission could not be rejected; however, several samples approached significance levels. When Mendelian transmission was assumed, reasonably good parameter estimates were obtained, although heterozygote penetrances were often overestimated. Different sampling schemes were imposed on the simulated data in order to examine the extent of information loss with the reduction in sample size. One of these strategies (a sequential sampling scheme) appears to have resulted in critical loss of information in some cases.

Original languageEnglish (US)
Pages (from-to)83-94
Number of pages12
JournalAmerican Journal of Human Genetics
Volume45
Issue number1
StatePublished - 1989

Fingerprint

Penetrance
Heterozygote
Genetic Models
Pedigree
Sample Size
Datasets

ASJC Scopus subject areas

  • Genetics

Cite this

Estimation of segregation and linkage parameters in simulated data. I. Segregation analyses with different ascertainment schemes. / Kramer, P. L.; Pauls, D. L.; Price, R. A.; Kidd, K. K.

In: American Journal of Human Genetics, Vol. 45, No. 1, 1989, p. 83-94.

Research output: Contribution to journalArticle

@article{6855bd5114a642fc8f62496dee1f7e58,
title = "Estimation of segregation and linkage parameters in simulated data. I. Segregation analyses with different ascertainment schemes",
abstract = "We report the results of a simulation study designed to assess the capability of segregation analysis to detect Mendelian transmission and to estimate genetic model parameters for complex qualitative traits, characterized by heritability in the range 0.20-0.45 and low heterozygote penetrance. The pedigree analysis package, PAP, was used to perform the analyses. For all data sets, models of no transmission could be rejected. In most cases, models of Mendelian transmission could not be rejected; however, several samples approached significance levels. When Mendelian transmission was assumed, reasonably good parameter estimates were obtained, although heterozygote penetrances were often overestimated. Different sampling schemes were imposed on the simulated data in order to examine the extent of information loss with the reduction in sample size. One of these strategies (a sequential sampling scheme) appears to have resulted in critical loss of information in some cases.",
author = "Kramer, {P. L.} and Pauls, {D. L.} and Price, {R. A.} and Kidd, {K. K.}",
year = "1989",
language = "English (US)",
volume = "45",
pages = "83--94",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "1",

}

TY - JOUR

T1 - Estimation of segregation and linkage parameters in simulated data. I. Segregation analyses with different ascertainment schemes

AU - Kramer, P. L.

AU - Pauls, D. L.

AU - Price, R. A.

AU - Kidd, K. K.

PY - 1989

Y1 - 1989

N2 - We report the results of a simulation study designed to assess the capability of segregation analysis to detect Mendelian transmission and to estimate genetic model parameters for complex qualitative traits, characterized by heritability in the range 0.20-0.45 and low heterozygote penetrance. The pedigree analysis package, PAP, was used to perform the analyses. For all data sets, models of no transmission could be rejected. In most cases, models of Mendelian transmission could not be rejected; however, several samples approached significance levels. When Mendelian transmission was assumed, reasonably good parameter estimates were obtained, although heterozygote penetrances were often overestimated. Different sampling schemes were imposed on the simulated data in order to examine the extent of information loss with the reduction in sample size. One of these strategies (a sequential sampling scheme) appears to have resulted in critical loss of information in some cases.

AB - We report the results of a simulation study designed to assess the capability of segregation analysis to detect Mendelian transmission and to estimate genetic model parameters for complex qualitative traits, characterized by heritability in the range 0.20-0.45 and low heterozygote penetrance. The pedigree analysis package, PAP, was used to perform the analyses. For all data sets, models of no transmission could be rejected. In most cases, models of Mendelian transmission could not be rejected; however, several samples approached significance levels. When Mendelian transmission was assumed, reasonably good parameter estimates were obtained, although heterozygote penetrances were often overestimated. Different sampling schemes were imposed on the simulated data in order to examine the extent of information loss with the reduction in sample size. One of these strategies (a sequential sampling scheme) appears to have resulted in critical loss of information in some cases.

UR - http://www.scopus.com/inward/record.url?scp=0024353164&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0024353164&partnerID=8YFLogxK

M3 - Article

C2 - 2741953

AN - SCOPUS:0024353164

VL - 45

SP - 83

EP - 94

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 1

ER -