nallo
github.com/genomic-medicine-sweden/nalloNallo is a bioinformatics analysis pipeline for long-reads from both PacBio and (targeted) ONT-data, focused on rare-disease. The pipeline detects a wide range of genetic variants, performs genome assembly, and reports CpG methylation. It also enables annotation and ranking of variants based on their predicted functional consequences.
Sourced from
- bio.tools — nallo
- GitHub — github.com/genomic-medicine-sweden/nallo
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