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T2T Variants

Code associated with "A complete reference genome improves analysis of human genetic variation" for analyses performed by the Dennis Lab.

  • collapsed_dups: code used to obtain collapsed duplications in GRCh38 and T2T-CHM13v1.0
  • clinical_genomics: code used to evaluate impact of collapsed duplication in clinical genomics for section "Impact of T2T-CHM13 on cClinical gGenomics"
  • ideogram: contains code used to generate Fig. 1A and 1B.