Increase of Power and Efficiency to Fine-Map Genetic Defects Using Genotype Probabilities Through Segregation Analyses

N Duijvesteijn; S A Clark; B P Kinghorn; J H J van der Werf

Increase of Power and Efficiency to Fine-Map Genetic Defects Using Genotype Probabilities Through Segregation Analyses

N Duijvesteijn
, S A Clark
, B P Kinghorn
, J H J van der Werf

Research output: Contribution to journal › Conference article › peer-review

Abstract

This simulation study shows a method which makes more efficient use of pedigree and genomic information to increase the chance to detect genetic disorders. We make use of Geneprob, a program which uses segregation analysis to calculate the genotype probabilities of pedigreed animals. The results show that our method, for a trait with a recessive inheritance pattern, is better in the detection of the region of the causative mutation compared to a method which used allele frequencies of cases and controls only. This method can be used across all pedigreed species.

Original language	English
Pages (from-to)	210-213
Journal	Proceedings of the Association for the Advancement of Animal Breeding and Genetics
Volume	23
Publication status	Published - 31 Dec 2019
Event	AAABG 2019: 23rd Conference of the Association for the Advancement of Animal Breeding and Genetics - University of New England, Armidale, Australia Duration: 27 Oct 2019 → 1 Nov 2019

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@article{0dbd766f98904b2ead3a539a3db83c2a,

title = "Increase of Power and Efficiency to Fine-Map Genetic Defects Using Genotype Probabilities Through Segregation Analyses",

abstract = "This simulation study shows a method which makes more efficient use of pedigree and genomic information to increase the chance to detect genetic disorders. We make use of Geneprob, a program which uses segregation analysis to calculate the genotype probabilities of pedigreed animals. The results show that our method, for a trait with a recessive inheritance pattern, is better in the detection of the region of the causative mutation compared to a method which used allele frequencies of cases and controls only. This method can be used across all pedigreed species.",

author = "N Duijvesteijn and Clark, \{S A\} and Kinghorn, \{B P\} and \{van der Werf\}, \{J H J\}",

year = "2019",

month = dec,

day = "31",

language = "English",

volume = "23",

pages = "210--213",

journal = "Proceedings of the Association for the Advancement of Animal Breeding and Genetics",

issn = "1328-3227",

publisher = "Association for the Advancement of Animal Breeding and Genetics (AAABG)",

note = "AAABG 2019: 23rd Conference of the Association for the Advancement of Animal Breeding and Genetics ; Conference date: 27-10-2019 Through 01-11-2019",

}

Increase of Power and Efficiency to Fine-Map Genetic Defects Using Genotype Probabilities Through Segregation Analyses. / Duijvesteijn, N; Clark, S A; Kinghorn, B P et al.
In: Proceedings of the Association for the Advancement of Animal Breeding and Genetics, Vol. 23, 31.12.2019, p. 210-213.

Research output: Contribution to journal › Conference article › peer-review

TY - JOUR

T1 - Increase of Power and Efficiency to Fine-Map Genetic Defects Using Genotype Probabilities Through Segregation Analyses

AU - Duijvesteijn, N

AU - Clark, S A

AU - Kinghorn, B P

AU - van der Werf, J H J

PY - 2019/12/31

Y1 - 2019/12/31

N2 - This simulation study shows a method which makes more efficient use of pedigree and genomic information to increase the chance to detect genetic disorders. We make use of Geneprob, a program which uses segregation analysis to calculate the genotype probabilities of pedigreed animals. The results show that our method, for a trait with a recessive inheritance pattern, is better in the detection of the region of the causative mutation compared to a method which used allele frequencies of cases and controls only. This method can be used across all pedigreed species.

AB - This simulation study shows a method which makes more efficient use of pedigree and genomic information to increase the chance to detect genetic disorders. We make use of Geneprob, a program which uses segregation analysis to calculate the genotype probabilities of pedigreed animals. The results show that our method, for a trait with a recessive inheritance pattern, is better in the detection of the region of the causative mutation compared to a method which used allele frequencies of cases and controls only. This method can be used across all pedigreed species.

UR - http://www.aaabg.org/aaabghome/

M3 - Conference article

SN - 1328-3227

VL - 23

SP - 210

EP - 213

JO - Proceedings of the Association for the Advancement of Animal Breeding and Genetics

JF - Proceedings of the Association for the Advancement of Animal Breeding and Genetics

T2 - AAABG 2019: 23rd Conference of the Association for the Advancement of Animal Breeding and Genetics

Y2 - 27 October 2019 through 1 November 2019

ER -

Increase of Power and Efficiency to Fine-Map Genetic Defects Using Genotype Probabilities Through Segregation Analyses

Abstract

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