Genome annotations are critical for understanding the functional elements within a genome, including genes, transcripts, regulatory regions, and other important features. Accurate genome annotations are essential for tasks such as variant annotation, gene expression analysis, and understanding the biological significance of genetic variants.
The pipelines incorporate several genome annotation resources compatible with the GRCh38 Genome Build.
- GENCODE: A comprehensive resource providing detailed annotations of gene features and other significant elements in the human genome.