Cargando…
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...
Autores principales: | , , |
---|---|
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 |
_version_ | 1785089094503628800 |
---|---|
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 |
format | Online Article Text |
id | pubmed-10421967 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT hardarsonmarteinnt ncourdmodellinglengthdistributionsofncoeventsandgeneconversiontracts AT palssongunnar ncourdmodellinglengthdistributionsofncoeventsandgeneconversiontracts AT halldorssonbjarniv ncourdmodellinglengthdistributionsofncoeventsandgeneconversiontracts |