Published April 8, 2026 | Version v4.0

millerlaboratory/needLR: needLR v4.0

  • 1. University of Washington, Miller Lab
  • 2. University of Washington
  • 3. VIB-UAntwerp

Description

What's Changed

  • major edits by @mgaleyuw in https://github.com/millerlaboratory/needLR/pull/12 merged into the main branch
  • needLR is contained in one script and has subcommands that replace separate mode scripts
  • merged VCFs can be used with custom cohorts
  • VCFs can be bgzipped and indexed by needLR
  • query VCFs can be provided as positional arguments, in a text file list, or as a merged VCF
  • custom control VCFs can be used with duo, trio, and with multisample VCFs
  • analysis can be restricted to a subregion (e.g. chrX:12345-23456)
  • annotations can be selected a la carte
  • OMIM modes of inheritance are in a separate column
  • genCC modes of inheritance and support levels are in a separate column
  • additional CPU thread argument can be passed to BCFtools
  • output can be saved in a custom location
  • needLR can run from any working directory when installed through bioconda
  • biocontainer installation possible
  • reference fasta file no longer used. This speeds up Truvari merging
  • awk statements are reworked for increased flexibility and reproducibility
  • added help functions and eror messaging
  • gene indexed annotations reworked
  • position based annotations all use bcftools annotate when possible
  • vcf output header includes all contigs in input vcfs

Full Changelog: https://github.com/millerlaboratory/needLR/commits/v4.0

Note that release does not include backend files necessary to run needLR. Please follow installation instructions in the README.

Files

millerlaboratory/needLR-v4.0.zip

Files (87.8 MB)

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