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NCOurd: modelling length distributions of NCO events and gene conversion tracts

MOTIVATION: Meiotic recombination is the main driving force of human genetic diversity, along with mutations. Recombinations split into crossovers, separating large chromosomal regions originating from different homologous chromosomes, and non-crossovers (NCOs), where a small segment from one chromo...

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Detalles Bibliográficos
Autores principales: Hardarson, Marteinn T, Palsson, Gunnar, Halldorsson, Bjarni V
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10421967/
https://www.ncbi.nlm.nih.gov/pubmed/37535674
http://dx.doi.org/10.1093/bioinformatics/btad485
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author Hardarson, Marteinn T
Palsson, Gunnar
Halldorsson, Bjarni V
author_facet Hardarson, Marteinn T
Palsson, Gunnar
Halldorsson, Bjarni V
author_sort Hardarson, Marteinn T
collection PubMed
description MOTIVATION: Meiotic recombination is the main driving force of human genetic diversity, along with mutations. Recombinations split into crossovers, separating large chromosomal regions originating from different homologous chromosomes, and non-crossovers (NCOs), where a small segment from one chromosome is embedded in a region originating from the homologous chromosome. NCOs are much less studied than mutations and crossovers as NCOs are short and can only be detected at markers heterozygous in the transmitting parent, leaving most of them undetectable. RESULTS: The detectable NCOs, known as gene conversions, hide information about NCOs, including their number and length, waiting to be unveiled. We introduce NCOurd, software, and algorithm, based on an expectation–maximization algorithm, to estimate the number of NCOs and their length distribution from gene conversion data. AVAILABILITY AND IMPLEMENTATION: https://github.com/DecodeGenetics/NCOurd
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spelling pubmed-104219672023-08-13 NCOurd: modelling length distributions of NCO events and gene conversion tracts Hardarson, Marteinn T Palsson, Gunnar Halldorsson, Bjarni V Bioinformatics Original Paper MOTIVATION: Meiotic recombination is the main driving force of human genetic diversity, along with mutations. Recombinations split into crossovers, separating large chromosomal regions originating from different homologous chromosomes, and non-crossovers (NCOs), where a small segment from one chromosome is embedded in a region originating from the homologous chromosome. NCOs are much less studied than mutations and crossovers as NCOs are short and can only be detected at markers heterozygous in the transmitting parent, leaving most of them undetectable. RESULTS: The detectable NCOs, known as gene conversions, hide information about NCOs, including their number and length, waiting to be unveiled. We introduce NCOurd, software, and algorithm, based on an expectation–maximization algorithm, to estimate the number of NCOs and their length distribution from gene conversion data. AVAILABILITY AND IMPLEMENTATION: https://github.com/DecodeGenetics/NCOurd Oxford University Press 2023-08-03 /pmc/articles/PMC10421967/ /pubmed/37535674 http://dx.doi.org/10.1093/bioinformatics/btad485 Text en © The Author(s) 2023. Published by Oxford University Press. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Paper
Hardarson, Marteinn T
Palsson, Gunnar
Halldorsson, Bjarni V
NCOurd: modelling length distributions of NCO events and gene conversion tracts
title NCOurd: modelling length distributions of NCO events and gene conversion tracts
title_full NCOurd: modelling length distributions of NCO events and gene conversion tracts
title_fullStr NCOurd: modelling length distributions of NCO events and gene conversion tracts
title_full_unstemmed NCOurd: modelling length distributions of NCO events and gene conversion tracts
title_short NCOurd: modelling length distributions of NCO events and gene conversion tracts
title_sort ncourd: modelling length distributions of nco events and gene conversion tracts
topic Original Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10421967/
https://www.ncbi.nlm.nih.gov/pubmed/37535674
http://dx.doi.org/10.1093/bioinformatics/btad485
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