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Smooth Descent: A ploidy-aware algorithm to improve linkage mapping in the presence of genotyping errors

Linkage mapping is an approach to order markers based on recombination events. Mapping algorithms cannot easily handle genotyping errors, which are common in high-throughput genotyping data. To solve this issue, strategies have been developed, aimed mostly at identifying and eliminating these errors...

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Autores principales: Thérèse Navarro, Alejandro, Bourke, Peter M., van de Weg, Eric, Clot, Corentin R., Arens, Paul, Finkers, Richard, Maliepaard, Chris
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10014611/
https://www.ncbi.nlm.nih.gov/pubmed/36936433
http://dx.doi.org/10.3389/fgene.2023.1049988
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author Thérèse Navarro, Alejandro
Bourke, Peter M.
van de Weg, Eric
Clot, Corentin R.
Arens, Paul
Finkers, Richard
Maliepaard, Chris
author_facet Thérèse Navarro, Alejandro
Bourke, Peter M.
van de Weg, Eric
Clot, Corentin R.
Arens, Paul
Finkers, Richard
Maliepaard, Chris
author_sort Thérèse Navarro, Alejandro
collection PubMed
description Linkage mapping is an approach to order markers based on recombination events. Mapping algorithms cannot easily handle genotyping errors, which are common in high-throughput genotyping data. To solve this issue, strategies have been developed, aimed mostly at identifying and eliminating these errors. One such strategy is SMOOTH, an iterative algorithm to detect genotyping errors. Unlike other approaches, SMOOTH can also be used to impute the most probable alternative genotypes, but its application is limited to diploid species and to markers heterozygous in only one of the parents. In this study we adapted SMOOTH to expand its use to any marker type and to autopolyploids with the use of identity-by-descent probabilities, naming the updated algorithm Smooth Descent (SD). We applied SD to real and simulated data, showing that in the presence of genotyping errors this method produces better genetic maps in terms of marker order and map length. SD is particularly useful for error rates between 5% and 20% and when error rates are not homogeneous among markers or individuals. With a starting error rate of 10%, SD reduced it to ∼5% in diploids, ∼7% in tetraploids and ∼8.5% in hexaploids. Conversely, the correlation between true and estimated genetic maps increased by 0.03 in tetraploids and by 0.2 in hexaploids, while worsening slightly in diploids (∼0.0011). We also show that the combination of genotype curation and map re-estimation allowed us to obtain better genetic maps while correcting wrong genotypes. We have implemented this algorithm in the R package Smooth Descent.
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spelling pubmed-100146112023-03-16 Smooth Descent: A ploidy-aware algorithm to improve linkage mapping in the presence of genotyping errors Thérèse Navarro, Alejandro Bourke, Peter M. van de Weg, Eric Clot, Corentin R. Arens, Paul Finkers, Richard Maliepaard, Chris Front Genet Genetics Linkage mapping is an approach to order markers based on recombination events. Mapping algorithms cannot easily handle genotyping errors, which are common in high-throughput genotyping data. To solve this issue, strategies have been developed, aimed mostly at identifying and eliminating these errors. One such strategy is SMOOTH, an iterative algorithm to detect genotyping errors. Unlike other approaches, SMOOTH can also be used to impute the most probable alternative genotypes, but its application is limited to diploid species and to markers heterozygous in only one of the parents. In this study we adapted SMOOTH to expand its use to any marker type and to autopolyploids with the use of identity-by-descent probabilities, naming the updated algorithm Smooth Descent (SD). We applied SD to real and simulated data, showing that in the presence of genotyping errors this method produces better genetic maps in terms of marker order and map length. SD is particularly useful for error rates between 5% and 20% and when error rates are not homogeneous among markers or individuals. With a starting error rate of 10%, SD reduced it to ∼5% in diploids, ∼7% in tetraploids and ∼8.5% in hexaploids. Conversely, the correlation between true and estimated genetic maps increased by 0.03 in tetraploids and by 0.2 in hexaploids, while worsening slightly in diploids (∼0.0011). We also show that the combination of genotype curation and map re-estimation allowed us to obtain better genetic maps while correcting wrong genotypes. We have implemented this algorithm in the R package Smooth Descent. Frontiers Media S.A. 2023-03-01 /pmc/articles/PMC10014611/ /pubmed/36936433 http://dx.doi.org/10.3389/fgene.2023.1049988 Text en Copyright © 2023 Thérèse Navarro, Bourke, van de Weg, Clot, Arens, Finkers and Maliepaard. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Thérèse Navarro, Alejandro
Bourke, Peter M.
van de Weg, Eric
Clot, Corentin R.
Arens, Paul
Finkers, Richard
Maliepaard, Chris
Smooth Descent: A ploidy-aware algorithm to improve linkage mapping in the presence of genotyping errors
title Smooth Descent: A ploidy-aware algorithm to improve linkage mapping in the presence of genotyping errors
title_full Smooth Descent: A ploidy-aware algorithm to improve linkage mapping in the presence of genotyping errors
title_fullStr Smooth Descent: A ploidy-aware algorithm to improve linkage mapping in the presence of genotyping errors
title_full_unstemmed Smooth Descent: A ploidy-aware algorithm to improve linkage mapping in the presence of genotyping errors
title_short Smooth Descent: A ploidy-aware algorithm to improve linkage mapping in the presence of genotyping errors
title_sort smooth descent: a ploidy-aware algorithm to improve linkage mapping in the presence of genotyping errors
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10014611/
https://www.ncbi.nlm.nih.gov/pubmed/36936433
http://dx.doi.org/10.3389/fgene.2023.1049988
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