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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
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Genome Annotation and Assembly03:36

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The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
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RNA-seq03:21

RNA-seq

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RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
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Related Experiment Video

Updated: Feb 21, 2026

Ultra-long Read Sequencing for Whole Genomic DNA Analysis
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Nallo: a Nextflow pipeline for comprehensive human long-read genome analysis.

Felix Lenner1,2,3, Anders Jemt2,3, Lucia Peña Pérez3,4,5

  • 1Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, 751 08, Sweden.

Bioinformatics (Oxford, England)
|February 19, 2026
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Summary

Nallo is a new Nextflow pipeline designed for comprehensive long-read sequencing data analysis. It supports PacBio and Oxford Nanopore technologies, aiding rare disease research by detecting genetic variants and performing genome assembly.

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Area of Science:

  • Genomics
  • Bioinformatics

Background:

  • Long-read sequencing (LRS) is crucial for human medical research and diagnostics, offering complete genome information.
  • A need exists for robust, user-friendly pipelines for comprehensive LRS data analysis.

Purpose of the Study:

  • To introduce Nallo, a Nextflow pipeline for analyzing long-read sequencing data.

Main Methods:

  • Nallo processes PacBio and Oxford Nanopore sequencing data.
  • The pipeline integrates variant detection, genome assembly, and CpG methylation analysis.
  • It includes annotation and functional consequence ranking for genetic variants.

Main Results:

  • Nallo provides a comprehensive analysis of LRS data.
  • It supports rare disease research projects.
  • The pipeline facilitates variant interpretation through annotation and ranking.

Conclusions:

  • Nallo offers a robust and accessible solution for long-read sequencing data analysis.
  • It enhances the utility of LRS in medical research and diagnostics, particularly for rare diseases.