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fix: Improved parameter estimation for (H)PHMM #371
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This now simply uses the first N records, where N is an estimation of alignments needed to perform the HPHMM param estimation. |
johanneskoester
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Jun 12, 2023
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Jun 12, 2023
🤖 I have created a release \*beep\* \*boop\* --- ## [8.2.0](https://www.github.com/varlociraptor/varlociraptor/compare/v8.1.1...v8.2.0) (2023-06-12) ### Features * warn on missing ANN records in mutational burden estimation ([#376](https://www.github.com/varlociraptor/varlociraptor/issues/376)) ([32006fb](https://www.github.com/varlociraptor/varlociraptor/commit/32006fb62450ad0b1f9786dca9c20759588792a2)) ### Bug Fixes * Improved parameter estimation for (H)PHMM ([#371](https://www.github.com/varlociraptor/varlociraptor/issues/371)) ([508333e](https://www.github.com/varlociraptor/varlociraptor/commit/508333e4471550ad7c14cb0b66ceeea8ff29996d)) --- This PR was generated with [Release Please](https://github.com/googleapis/release-please). See [documentation](https://github.com/googleapis/release-please#release-please). Co-authored-by: github-actions[bot] <41898282+github-actions[bot]@users.noreply.github.com>
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Description
This PR updates the (H)PHMM parameter estimation routine:
3M2D1I2M
→1M1M1M1D1D1I1M1M
)(1M, 1M)
and look at rseq and qseq at the corresponding positions(1M, 1M)
together with((T, T), (G, G))
corresponds to amatch T → match G
transitionN
records from the SAM/BAM/CRAM, whereN
is a number calculated as a multinomial sample size estimation as described in https://www.jstor.org/stable/2683352When the number of alignments in the file is known (which is the case for indexed BAM files but not for indexed SAM/CRAM), can use a finite population correction version of the estimate instead.
N
records (possibly biased subsample, but definitely quicker)QC