Family-Based Haplotype Estimation and Allele Dosage Correction for Polyploids Using Short Sequence Reads

DNA sequence reads contain information about the genomic variants located on a single chromosome. By extracting and extending this information using the overlaps between the reads, the haplotypes of an individual can be obtained. Using parent-offspring relationships in a population can considerably...

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Main Authors: Ehsan Motazedi, Chris Maliepaard, Richard Finkers, Richard Visser, Dick de Ridder
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-04-01
Series:Frontiers in Genetics
Subjects:
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00335/full
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author Ehsan Motazedi
Ehsan Motazedi
Chris Maliepaard
Richard Finkers
Richard Visser
Dick de Ridder
author_facet Ehsan Motazedi
Ehsan Motazedi
Chris Maliepaard
Richard Finkers
Richard Visser
Dick de Ridder
author_sort Ehsan Motazedi
collection DOAJ
description DNA sequence reads contain information about the genomic variants located on a single chromosome. By extracting and extending this information using the overlaps between the reads, the haplotypes of an individual can be obtained. Using parent-offspring relationships in a population can considerably improve the quality of the haplotypes obtained from short reads, as pedigree information can be used to correct for spurious overlaps (due to sequencing errors) and insufficient overlaps (due to short read lengths, low genomic variation and shallow coverage). We developed a novel method, PopPoly, to estimate polyploid haplotypes in an F1-population from short sequence data by taking into consideration the transmission of the haplotypes from the parents to the offspring. In addition, this information is employed to improve genotype dosage estimation and to call missing genotypes in the population. Through simulations, we compare PopPoly to other haplotyping methods and show its better performance. We evaluate PopPoly by applying it to a tetraploid potato cross at nine genomic regions involved in tuber formation.
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spelling doaj.art-a6d79dd4d66647cf9245f3a328047e842022-12-22T00:38:37ZengFrontiers Media S.A.Frontiers in Genetics1664-80212019-04-011010.3389/fgene.2019.00335442980Family-Based Haplotype Estimation and Allele Dosage Correction for Polyploids Using Short Sequence ReadsEhsan Motazedi0Ehsan Motazedi1Chris Maliepaard2Richard Finkers3Richard Visser4Dick de Ridder5Bioinformatics Group, Wageningen University & Research, Wageningen, NetherlandsPlant Breeding, Wageningen University & Research, Wageningen, NetherlandsPlant Breeding, Wageningen University & Research, Wageningen, NetherlandsPlant Breeding, Wageningen University & Research, Wageningen, NetherlandsPlant Breeding, Wageningen University & Research, Wageningen, NetherlandsBioinformatics Group, Wageningen University & Research, Wageningen, NetherlandsDNA sequence reads contain information about the genomic variants located on a single chromosome. By extracting and extending this information using the overlaps between the reads, the haplotypes of an individual can be obtained. Using parent-offspring relationships in a population can considerably improve the quality of the haplotypes obtained from short reads, as pedigree information can be used to correct for spurious overlaps (due to sequencing errors) and insufficient overlaps (due to short read lengths, low genomic variation and shallow coverage). We developed a novel method, PopPoly, to estimate polyploid haplotypes in an F1-population from short sequence data by taking into consideration the transmission of the haplotypes from the parents to the offspring. In addition, this information is employed to improve genotype dosage estimation and to call missing genotypes in the population. Through simulations, we compare PopPoly to other haplotyping methods and show its better performance. We evaluate PopPoly by applying it to a tetraploid potato cross at nine genomic regions involved in tuber formation.https://www.frontiersin.org/article/10.3389/fgene.2019.00335/fullhaplotypepolyploidsequence datafamilyestimation
spellingShingle Ehsan Motazedi
Ehsan Motazedi
Chris Maliepaard
Richard Finkers
Richard Visser
Dick de Ridder
Family-Based Haplotype Estimation and Allele Dosage Correction for Polyploids Using Short Sequence Reads
Frontiers in Genetics
haplotype
polyploid
sequence data
family
estimation
title Family-Based Haplotype Estimation and Allele Dosage Correction for Polyploids Using Short Sequence Reads
title_full Family-Based Haplotype Estimation and Allele Dosage Correction for Polyploids Using Short Sequence Reads
title_fullStr Family-Based Haplotype Estimation and Allele Dosage Correction for Polyploids Using Short Sequence Reads
title_full_unstemmed Family-Based Haplotype Estimation and Allele Dosage Correction for Polyploids Using Short Sequence Reads
title_short Family-Based Haplotype Estimation and Allele Dosage Correction for Polyploids Using Short Sequence Reads
title_sort family based haplotype estimation and allele dosage correction for polyploids using short sequence reads
topic haplotype
polyploid
sequence data
family
estimation
url https://www.frontiersin.org/article/10.3389/fgene.2019.00335/full
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