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Version 2.2.1
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armintoepfer committed Jun 6, 2019
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Expand Up @@ -25,7 +25,7 @@ Please refer to our [official pbbioconda page](https://github.com/PacificBioscie
for information on Installation, Support, License, Copyright, and Disclaimer.

## Latest Version
Version **2.2.0**: [Full changelog here](#full-changelog)
Version **2.2.1**: [Full changelog here](#full-changelog)

## Workflow
<p align="center"><img width="700px" src="img/pbsv-stage-workflow.png"/></p>
Expand Down Expand Up @@ -185,6 +185,8 @@ The VCF call marks the most likely position and size of the inverted segment, as
### Translocations
Translocations are identified using breakends of individual split reads with
a query skip of less than `-k,--max-skip-split [100]`.
The minimum reads that support a BND (total over all samples), can be defined
with `--call-min-bnd-reads-all-samples [2]`.
All four breakend combinations are supported:
<p align="center"><img width="700px" src="img/pbsv-breakends.png"/></p>

Expand Down Expand Up @@ -281,14 +283,18 @@ it will happen that we call SVs that have support from multiple
subreads, but all of them are from the same ZMW. In NGS you would call
that PCR duplicates or some would refer to them as technical replicates.
One does not want to account evidence more than once per ZMW aka per
molecule.
molecule.
The median filter picks one subread per ZMW, to be precise the subread
of median length, to have exactly one evidence per molecule. If you
don't use it, you will get false positive SV calls and the genotypes
will be wrong.

## Full Changelog
* **2.2.0**:
* **2.2.1**:
* Public release in SMRT Link 7.0.0
* Add `—call-min-bnd-reads-all-samples`

* 2.2.0:
* Add duplications and copy number variations
* Improved sensitivity for larger insertions and deletions
* Simplified parameters and relaxed inversion calling criteria
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