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Título
NGS data analysis: a review of major tools and pipeline frameworks for variant discovery
Autor(es)
Materia
Machine learning
Bioinformatics
Next-Generation Sequencing
Pipeline
Clasificación UNESCO
2409 Genética
1203.04 Inteligencia Artificial
Fecha de publicación
2022
Resumen
[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.
URI
Colecciones
- BISITE. Artículos [294]