sitadela

sitadela provides an interface to build a unified database of genomic annotations and their coordinates at gene, transcript, and exon levels.

Key Features:

• Simple annotation output: Generates simple tab-delimited annotations or simple GRanges objects instead of more complex annotation Bioconductor packages.
• Combinatorial annotations: Supports combining annotation elements from different sources, such as RefSeq coordinates with Ensembl biotypes.
• Versioned annotations: Downloads, constructs, and handles annotations with versioned genes and transcripts from sources such as RefSeq and latest Ensembl.

Scientific Applications:

• Precision medicine: Supports reporting of versioned genes and transcripts required in precision medicine applications.

Methodology:

The package downloads annotation data from multiple sources and constructs a unified database with coordinates at gene, transcript, and exon levels.