Releases: quinlan-lab/STRling
Releases · quinlan-lab/STRling
v0.1.0 Joint genotyping
Major features
- Joint genotyping: Add an optional merge subcommand which combines str read information from all sample bins to produce joint bounds that are. These loci are then genotyped in all samples.
- Assign reads to bounds based on original cluster distances
- provide STR disease loci for hg38
- change default: no soft-clipped reads required for reporting loci
- count repeats in overlapping reads (not just spanning) and don't report very high depth regions
- only count STR loci that pass some size criteria when deciding if unplaced reads should be allocated
- update bin file to hold version, frag dist, etc.
- update linear models
- Force reporting of loci from input files even if they have insufficient supporting reads (useful for comparing individuals across cohorts)
Minor features
- Suppress reporting of several messages and output of read files to debug mode (spanning in particular can be very large for joint calling)
- change column order of -bounds.txt to make it valid bed format and add header
- add option to manually limit window for bounds
- read both bounds and bed files as input at call and merge stage
- anchored lm returns NaN when sum_str_counts is 0
- set all bam threads to 0. Addresses #32 htslib error
- basic end to end test run in CI for a single sample and 2 joint
- update simulation to use merge and different insert sizes
initial release
this is a first release of strling. to install, just grab the strling
binary below, chmod+x and run
to get more information in case of a problem. run with strling_debug
(which will be much slower) but will help as we iron out any issues.