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


Journal

Bioinformatics (Oxford, England)
ISSN: 1367-4811
Titre abrégé: Bioinformatics
Pays: England
ID NLM: 9808944

Informations de publication

Date de publication:
01 08 2023
Historique:
received: 19 04 2023
revised: 18 07 2023
accepted: 02 08 2023
medline: 14 8 2023
pubmed: 3 8 2023
entrez: 3 8 2023
Statut: ppublish

Résumé

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. 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. https://github.com/DecodeGenetics/NCOurd.

Identifiants

pubmed: 37535674
pii: 7236498
doi: 10.1093/bioinformatics/btad485
pmc: PMC10421967
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© The Author(s) 2023. Published by Oxford University Press.

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Auteurs

Marteinn T Hardarson (MT)

deCODE genetics, Reykjavik 102, Iceland.
School of Technology, Reykjavik University, Reykjavik 102, Iceland.

Gunnar Palsson (G)

deCODE genetics, Reykjavik 102, Iceland.

Bjarni V Halldorsson (BV)

deCODE genetics, Reykjavik 102, Iceland.
School of Technology, Reykjavik University, Reykjavik 102, Iceland.

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Classifications MeSH