nallo

Nallo analyzes long-read sequencing data from PacBio and Oxford Nanopore Technologies to detect genetic variants, perform genome assembly, and report CpG methylation with a focus on rare-disease research.

Key Features:

• Variant Detection: Detects a wide range of genetic variants from long-read sequencing data.
• Genome Assembly: Performs genome assembly as part of the analysis workflow.
• CpG Methylation Reporting: Reports CpG methylation from the input sequencing data.
• Variant Annotation and Ranking: Enables annotation and ranking of variants based on their predicted functional consequences.
• Multi-platform Support: Processes both PacBio and targeted Oxford Nanopore Technologies data.

Scientific Applications:

• Rare-Disease Research: Provides additional support for rare disease research projects through comprehensive long-read genome analysis.
• Human Medical Research: Generates complete genome information for human medical research applications.
• Clinical Diagnostics: Supports clinical diagnostics through comprehensive long-read sequencing data analysis.

Methodology:

Nallo is implemented as a Nextflow pipeline.