Kivvi v1.0.0

Summary of changes:
Major improvements to D4Z4, now reporting a comprehensive set of information for all D4Z4 alleles in a sample (see allele_info field in the JSON). For partially assembled alleles, a lower bound of array size is reported.

Linux binaries are available for download below.

Kivvi v0.5.0

Summary of changes:

• Add calling of in-cis duplications of D4Z4 array
• Refactor methylation calling and add a summary methylation value for each sample
• Small updates to D4Z4, including a slightly bigger extraction region and edge case calling of originating chromosome and distal haplotype

Linux binaries are available for download below.

Kivvi is still in early development. Please file an issue or reach out by email if you run into problems or have questions/suggestions.

Kivvi v0.4.0

Summary of changes:

• For D4Z4, add reporting (methylation, chromosome, distal haplotypes) for the starting and ending portions of all alleles, including partial alleles
• Realign against called variants using WFA graph to improve fingerprint detection
• Improve filtering out wrongly assembled alleles
• Improve variant reporting in the JSON output file
• Allow fingerprints with clips (those that do not span the full repeat unit), enabling future calling of in-cis duplications for D4Z4

Linux binaries are available for download below.

Kivvi is still in early development. Please file an issue or reach out by email if you run into problems or have questions/suggestions.

Kivvi v0.3.0

This is the initial release of Kivvi. Linux binaries are available for download below.

Kivvi is still in early development. Please file an issue or reach out by email if you run into problems or have questions/suggestions.