github.com/broadinstitute/T2T-ACE/T2T-ACE

T2T-ACE

Accurate CNV Evaluation Using Telomere-to-Telomere Assemblies

Run T2T-ACE

This tool is designed to evaluate the accuracy of CNV calls using the T2T assembly as a reference.
The tool will align the CNV calls to the T2T assembly and the hg38 assembly and compare the alignment results.

python3 T2T_ACE/run_T2T-ACE.py --cnv_vcf <cnv_vcf> --t2t_ref <t2t_assembly.fa> --hg38_ref <hg38_assembly.fa>

Download Assembly Files

The T2T assembly and the hg38 assembly can be d


This is a companion discussion topic for the original entry at github.com/broadinstitute/T2T-ACE/T2T-ACE