Video Experimental Relacionado

Updated: Feb 21, 2026

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Published on: March 15, 2019

Nallo: un pipeline Nextflow para el análisis integral del genoma humano de lectura larga

Felix Lenner^1,2,3, Anders Jemt^2,3, Lucia Peña Pérez^3,4,5

¹Department of Immunology, Genetics and Pathology, Uppsala University, Sweden.

Bioinformatics (Oxford, England)

|February 19, 2026

Resumen

Nallo es un nuevo pipeline Nextflow diseñado para el análisis integral de datos de secuenciación de lectura larga. Admite tecnologías PacBio y Oxford Nanopore, ayudando en la investigación de enfermedades raras mediante la detección de variantes genéticas y el ensamblaje del genoma.

Sus antecedentes:

La secuenciación de lectura larga (LRS) es crucial para la investigación y el diagnóstico médico humano, ya que ofrece información genómica completa.
Existe la necesidad de pipelines robustos y fáciles de usar para el análisis integral de datos de LRS.

Conclusiones:

Nallo ofrece una solución robusta y accesible para el análisis de datos de secuenciación de lectura larga.
Mejora la utilidad de LRS en la investigación y el diagnóstico médico, particularmente para enfermedades raras.

Palabras clave:

Nallo Nextflow pipeline long-read sequencing genome analysis variant detection genome assembly rare disease research PacBio Oxford Nanopore CpG methylation

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