Under the hood, it uses the UCSC liftOver command-line tool for intervals and positions,
while for variants it uses a new bcftools plugin which avoids many of the
limitations of other liftover tools (particularly for indels) as described in [Genovese 2024]. All chain files were downloaded from UCSC.
March 3, 2024
- Moved server to Google Cloud Run
- Input variants are now left-aligned before being displayed in the results table
January 18, 2024
- For liftover of variants, this site now uses a new bcftools plugin
which avoids many of the limitations of other liftover tools (particularly for indels) as described in [Genovese 2024].
December 16, 2022
- Added T2T => hg38
June 15, 2021
- Added hg38 => telomere-to-telomere (T2T) liftover
Related web tools: SpliceAI Lookup: compute and visualize SpliceAI, Pangolin scores for your variant(s) gene-lookup: monogenic gene-disease associations lookup TRExplorer: tandem repeat annotations and population allele freqs