hg38

Identify which human reference genome was used to align a BAM/SAM/CRAM file

TCGA hg19 and hg38 data downloader.

Documentation for all things related to `recount3`

Alternative splicing event annotation for Human assembly (hg38)

Modular RNA-seq variant calling and annotation framework (hg38) integrating STAR and GATK Best Practices to extract high-confidence SNPs and enable gene-level and systems biology analyses of expressed genetic variation.

Snakemake workflow for the generate of BAM alignment statistics.

Experiments on DNA

RBP-RELI: hg38 permutation-based CLIP-peak overlap enrichment engine for alternative-splicing events (Numba CPU reference backend). Public snapshot from v1.1.0.

Pre-computed annotations to compute TF deviation scores on hg38 genome.

Pre-built Subread index for Human GRCh38. Skip the genome indexing step and download the ready-to-use index files instantly.

Reproducible benchmarks: VarNova vs ANNOVAR, VEP, and SnpEff. VarNova is 14× faster than ANNOVAR and 10.7× faster than VEP on full genomic variant annotation pipeline. Includes binary download, benchmark scripts, and test data.