2026-09-18T10:44:12Zhttps://gredos.usal.es/oai/requestoai:gredos.usal.es:10366/1531112025-04-30T20:36:43Zcom_10366_122575com_10366_4512com_10366_3823col_10366_134243
Gestión del Repositorio Documental de la Universidad de Salamanca
author
Canal-Alonso, Ángel
author
Egido, Noelia
author
Jiménez, Pedro
author
Corchado Rodríguez, Juan Manuel
2023-10-02T11:24:43Z
2023-10-02T11:24:43Z
2022
http://hdl.handle.net/10366/153111
[EN]The analysis of genetic data has always been a problem due to the large amount of information available and the difficulty in isolating that which is relevant. However, over the years progress in sequencing techniques has been accompanied by a development of computer techniques to the current application of artificial intelligence. We can summarize the phases of sequence analysis in the following: quality assessment, alignment, pre-variant processing, variant calling and variant annotation. In this article we will review and comment on the tools used in each phase of genetic sequencing, and analyze the drawbacks and advantages offered by each of them.
eng
Machine learning
Bioinformatics
Next-Generation Sequencing
Pipeline
NGS data analysis: a review of major tools and pipeline frameworks for variant discovery
info:eu-repo/semantics/article
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URL
https://gredos.usal.es/bitstream/10366/153111/1/Pipeline_tools_en.pdf
File
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Pipeline_tools_en.pdf
URL
https://gredos.usal.es/bitstream/10366/153111/3/Pipeline_tools_en.pdf.txt
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text/plain
Pipeline_tools_en.pdf.txt