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Improved computations for relationship inference using low-coverage sequencing data

Pedigree inference, for example determining whether two persons are second cousins or unrelated, can be done by comparing their genotypes at a selection of genetic markers. When the data for one or more of the persons is from low-coverage next generation sequencing (lcNGS), currently available compu...

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Detalles Bibliográficos
Autores principales: Mostad, Petter, Tillmar, Andreas, Kling, Daniel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9999603/
https://www.ncbi.nlm.nih.gov/pubmed/36894920
http://dx.doi.org/10.1186/s12859-023-05217-z
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author Mostad, Petter
Tillmar, Andreas
Kling, Daniel
author_facet Mostad, Petter
Tillmar, Andreas
Kling, Daniel
author_sort Mostad, Petter
collection PubMed
description Pedigree inference, for example determining whether two persons are second cousins or unrelated, can be done by comparing their genotypes at a selection of genetic markers. When the data for one or more of the persons is from low-coverage next generation sequencing (lcNGS), currently available computational methods either ignore genetic linkage or do not take advantage of the probabilistic nature of lcNGS data, relying instead on first estimating the genotype. We provide a method and software (see familias.name/lcNGS) bridging the above gap. Simulations indicate how our results are considerably more accurate compared to some previously available alternatives. Our method, utilizing a version of the Lander-Green algorithm, uses a group of symmetries to speed up calculations. This group may be of further interest in other calculations involving linked loci. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12859-023-05217-z.
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spelling pubmed-99996032023-03-11 Improved computations for relationship inference using low-coverage sequencing data Mostad, Petter Tillmar, Andreas Kling, Daniel BMC Bioinformatics Research Pedigree inference, for example determining whether two persons are second cousins or unrelated, can be done by comparing their genotypes at a selection of genetic markers. When the data for one or more of the persons is from low-coverage next generation sequencing (lcNGS), currently available computational methods either ignore genetic linkage or do not take advantage of the probabilistic nature of lcNGS data, relying instead on first estimating the genotype. We provide a method and software (see familias.name/lcNGS) bridging the above gap. Simulations indicate how our results are considerably more accurate compared to some previously available alternatives. Our method, utilizing a version of the Lander-Green algorithm, uses a group of symmetries to speed up calculations. This group may be of further interest in other calculations involving linked loci. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12859-023-05217-z. BioMed Central 2023-03-09 /pmc/articles/PMC9999603/ /pubmed/36894920 http://dx.doi.org/10.1186/s12859-023-05217-z Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research
Mostad, Petter
Tillmar, Andreas
Kling, Daniel
Improved computations for relationship inference using low-coverage sequencing data
title Improved computations for relationship inference using low-coverage sequencing data
title_full Improved computations for relationship inference using low-coverage sequencing data
title_fullStr Improved computations for relationship inference using low-coverage sequencing data
title_full_unstemmed Improved computations for relationship inference using low-coverage sequencing data
title_short Improved computations for relationship inference using low-coverage sequencing data
title_sort improved computations for relationship inference using low-coverage sequencing data
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9999603/
https://www.ncbi.nlm.nih.gov/pubmed/36894920
http://dx.doi.org/10.1186/s12859-023-05217-z
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