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Updated: Feb 21, 2026

Ultra-long Read Sequencing for Whole Genomic DNA Analysis
10:34

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Published on: March 15, 2019

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ナロ:包括的なヒトの長読ゲノム分析のためのNextflowパイプライン

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

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

Bioinformatics (Oxford, England)
|February 19, 2026
PubMed
まとめ

Nalloは,包括的な長読シーケンシングデータ分析のために設計された新しいNextflowパイプラインです. PacBioとオックスフォードのナノポア技術をサポートし,遺伝子の変異を検出し,ゲノムアセンブリを実行することにより,まれな疾患の研究を支援します.

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Next-generation Sequencing03:00

Next-generation Sequencing

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

Genome Annotation and Assembly

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-seq

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. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
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