Published April 8, 2026
| Version v4.0
Software
Open
millerlaboratory/needLR: needLR v4.0
Authors/Creators
- 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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Additional details
Related works
- Is supplement to
- Software: https://github.com/millerlaboratory/needLR/tree/v4.0 (URL)
Software
- Repository URL
- https://github.com/millerlaboratory/needLR