-
Notifications
You must be signed in to change notification settings - Fork 10
Commit
This commit does not belong to any branch on this repository, and may belong to a fork outside of the repository.
- Loading branch information
Showing
3 changed files
with
33 additions
and
0 deletions.
There are no files selected for viewing
This file contains bidirectional Unicode text that may be interpreted or compiled differently than what appears below. To review, open the file in an editor that reveals hidden Unicode characters.
Learn more about bidirectional Unicode characters
Original file line number | Diff line number | Diff line change |
---|---|---|
@@ -0,0 +1,27 @@ | ||
## Getting Started | ||
|
||
```sh | ||
wget https://github.com/lh3/dipcall/releases/download/v0.1/dipcall-0.1_x64-linux.tar.bz2 | ||
tar -jxf dipcall-0.1_x64-linux.tar.bz2 | ||
# for female | ||
dipcall.kit/run-dipcall prefix hs38.fa pat.fa.gz mat.fa.gz > prefix.mak | ||
# or for male, requiring PAR regions in BED | ||
# dipcall.kit/run-dipcall -x dipcall.kit/hs38.PAR.bed prefix hs38.fa pat.fa.gz mat.fa.gz > prefix.mak | ||
make -j2 -f prefix.mak | ||
``` | ||
|
||
## Introduction | ||
|
||
Dipcall is a reference-based variant calling pipeline for a pair of phased | ||
haplotype assemblies. It was originally developed for constructing the | ||
[syndip][syndip] benchmark dataset and has been applied to other phased | ||
assemblies, too. Dipcall can call small variants and long INDELs as long as | ||
they are contained in minimap2 alignment. | ||
|
||
If you use dipcall, please cite | ||
|
||
> Li H, Bloom JM, Farjoun Y, Fleharty M, Gauthier L, Neale B, MacArthur D | ||
> (2018) A synthetic-diploid benchmark for accurate variant-calling evaluation. | ||
> Nat Methods, 15:595-597. [PMID:30013044] | ||
[syndip]: https://github.com/lh3/CHM-eval |
This file contains bidirectional Unicode text that may be interpreted or compiled differently than what appears below. To review, open the file in an editor that reveals hidden Unicode characters.
Learn more about bidirectional Unicode characters
This file contains bidirectional Unicode text that may be interpreted or compiled differently than what appears below. To review, open the file in an editor that reveals hidden Unicode characters.
Learn more about bidirectional Unicode characters