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New simulated dataset, new "kevlar localize" command #83
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Codecov Report
@@ Coverage Diff @@
## master #83 +/- ##
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+ Coverage 82.72% 83.05% +0.33%
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Files 27 29 +2
Lines 1430 1523 +93
Branches 220 239 +19
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+ Hits 1183 1265 +82
- Misses 205 211 +6
- Partials 42 47 +5
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This PR addresses two issues that have captured my focus recently.
First, we're in dire need of a data set for testing where 1) we know the "correct" answers (variant calls) and 2) we can run and re-run the
kevlar
workflow quickly. I've simulated various data sets for testing & continuous integration purposes in the past: there are on the side of "too trivial". I've also simulated some larger data sets recently, but these are on the side of "take too long to run".Second, up until recently I've been doing all variant calling by examining alignments manually. It's past time to automate this! But this underscored the need for the first point, so there's been a bit of yak shaving going on.
I'm happy to present
notebook/human-sim-pico
andkevlar localize
.The directory
notebook/human-sim-pico
has the complete record for how I produced a 2.5 Mb random human-like genome from scratch. This includes a Jupyter notebook, some data files, several commands, and a bit of commentary.The command
kevlar localize
takes akevlar assemble
-generated Fasta file, invokes BWA to localize the k-mers in the reference genome, and (assuming it maps to a single region) extracts the genomic interval associated with the assembled contig(s) plus a bit. The assembled contig(s) will then be aligned to this genomic region with a dynamic programming solution to be implemented soon by Fereydoun.This PR still needs a bit of cleanup (mostly documentation and tests) before it is merged.