Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
ngsJulia: population genetic analysis of next-generation DNA sequencing data with Julia language
Stockholm University, Faculty of Science, Department of Ecology, Environment and Plant Sciences.ORCID iD: 0000-0002-2962-2669
2022 (English)In: F1000 Research, E-ISSN 2046-1402, Vol. 11, article id 126Article in journal (Refereed) Published
Abstract [en]

A sound analysis of DNA sequencing data is important to extract meaningful information and infer quantities of interest. Sequencing and mapping errors coupled with low and variable coverage hamper the identification of genotypes and variants and the estimation of population genetic parameters. Methods and implementations to estimate population genetic parameters from sequencing data available nowadays either are suitable for the analysis of genomes from model organisms only, require moderate sequencing coverage, or are not easily adaptable to specific applications. To address these issues, we introduce ngsJulia, a collection of templates and functions in Julia language to process short-read sequencing data for population genetic analysis. We further describe two implementations, ngsPool and ngsPloidy, for the analysis of pooled sequencing data and polyploid genomes, respectively. Through simulations, we illustrate the performance of estimating various population genetic parameters using these implementations, using both established and novel statistical methods. These results inform on optimal experimental design and demonstrate the applicability of methods in ngsJulia to estimate parameters of interest even from low coverage sequencing data. ngsJulia provide users with a flexible and efficient framework for ad hoc analysis of sequencing data.ngsJulia is available from: https://github.com/mfumagalli/ngsJulia

Place, publisher, year, edition, pages
2022. Vol. 11, article id 126
Keywords [en]
high-throughput sequencing data, population genetics, genotype likelihoods, Julia language, pooled sequencing, polyploidy, aneuploidy
National Category
Biological Sciences
Identifiers
URN: urn:nbn:se:su:diva-213947DOI: 10.12688/f1000research.104368.2PubMedID: 37745626Scopus ID: 2-s2.0-85152918682OAI: oai:DiVA.org:su-213947DiVA, id: diva2:1728568
Available from: 2023-01-18 Created: 2023-01-18 Last updated: 2024-11-08Bibliographically approved

Open Access in DiVA

fulltext(1310 kB)117 downloads
File information
File name FULLTEXT01.pdfFile size 1310 kBChecksum SHA-512
ef1dbd3db6f0c8871c600a1509652fa7e0c7faba3f2f3d7682f530612f1681dad042f44080ea674f2490027f819d142ca11b78307d77b0f8d4b80bb0df16d3c4
Type fulltextMimetype application/pdf

Other links

Publisher's full textPubMedScopus

Authority records

Fracassetti, Marco

Search in DiVA

By author/editor
Fracassetti, Marco
By organisation
Department of Ecology, Environment and Plant Sciences
In the same journal
F1000 Research
Biological Sciences

Search outside of DiVA

GoogleGoogle Scholar
Total: 117 downloads
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

doi
pubmed
urn-nbn

Altmetric score

doi
pubmed
urn-nbn
Total: 58 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf