aboutsummaryrefslogtreecommitdiff
path: root/gn
diff options
context:
space:
mode:
Diffstat (limited to 'gn')
-rw-r--r--gn/packages/bioinformatics.scm129
1 files changed, 129 insertions, 0 deletions
diff --git a/gn/packages/bioinformatics.scm b/gn/packages/bioinformatics.scm
index 700dec4..0a131f5 100644
--- a/gn/packages/bioinformatics.scm
+++ b/gn/packages/bioinformatics.scm
@@ -48,6 +48,7 @@
#:use-module (gnu packages fontutils)
#:use-module (gnu packages gcc)
#:use-module (gnu packages ghostscript)
+ #:use-module (gnu packages graph)
#:use-module (gnu packages gtk)
#:use-module (gnu packages guile)
#:use-module (gnu packages image)
@@ -61,6 +62,7 @@
#:use-module (gnu packages mpi)
#:use-module (gnu packages ncurses)
#:use-module (gnu packages ocaml)
+ #:use-module (gnu packages parallel)
#:use-module (gnu packages perl)
#:use-module (gnu packages pkg-config)
#:use-module (gnu packages protobuf)
@@ -2483,6 +2485,133 @@ multiple sequence alignment.")
license:zlib ; deps/sonLib/externalTools/cutest
license:boost1.0)))) ; catch.hpp
+(define-public pggb
+ (let ((commit "9ebff27320382e470ed38a85b4448402e1e7c353")
+ (revision "1"))
+ (package
+ (name "pggb")
+ (version (git-version "0.5.1" revision commit))
+ (source (origin
+ (method git-fetch)
+ (uri (git-reference
+ (url "https://github.com/pangenome/pggb")
+ (commit commit)))
+ (file-name (git-file-name name version))
+ (sha256
+ (base32 "0rgpj52q3ai7f1saqbilgx5gz4f403x3427wq649qwv84ivmi1sf"))))
+ (build-system copy-build-system)
+ (arguments
+ (list
+ #:install-plan
+ #~'(("pggb" "bin/")
+ ("partition-before-pggb" "bin/")
+ ("scripts/" "bin/")
+ ("scripts" "bin/scripts"))
+ #:phases
+ #~(modify-phases %standard-phases
+ (add-before 'install 'patch-binary-path
+ (lambda* (#:key inputs #:allow-other-keys)
+ (substitute* "scripts/vcf_preprocess.sh"
+ (("bcftools ")
+ (string-append (search-input-file inputs "/bin/bcftools") " ")))
+ (wrap-script "scripts/net2communities.py"
+ `("GUIX_PYTHONPATH" ":" prefix
+ (,(getenv "GUIX_PYTHONPATH"))))))
+ (add-after 'install 'wrap-scripts
+ (lambda* (#:key inputs outputs #:allow-other-keys)
+ (let ((out (assoc-ref outputs "out")))
+ (for-each
+ (lambda (file)
+ (wrap-script file
+ `("PATH" ":" prefix
+ ,(map (lambda (input) (string-append input "/bin"))
+ '#$(map (lambda (label) (this-package-input label))
+ (list "bcftools"
+ "bedtools"
+ "gfaffix"
+ "fastix"
+ "multiqc"
+ "mummer"
+ "odgi-hwcaps"
+ "pafplot"
+ "parallel"
+ "pigz"
+ "r-data-table"
+ "rtg-tools"
+ "samtools"
+ "seqwish"
+ "smoothxg"
+ ;"tabix"
+ "vcfbub"
+ "vcflib"
+ "vg"
+ "wfmash-hwcaps"))))))
+ (list (string-append out "/bin/pggb")
+ (string-append out "/bin/partition-before-pggb")
+ (string-append out "/bin/gfa2evaluation.sh")
+ (string-append out "/bin/scripts/gfa2evaluation.sh"))))))
+ (add-after 'install 'substitute-file-paths
+ (lambda* (#:key outputs #:allow-other-keys)
+ (let ((out (assoc-ref outputs "out")))
+ (substitute* (string-append out "/bin/gfa2evaluation.sh")
+ (("/usr/local/bin/vcf_preprocess.sh")
+ (string-append out "/bin/vcf_preprocess.sh"))
+ (("/usr/local/bin/nucmer2vcf.R")
+ (string-append out "/bin/nucmer2vcf.R")))))))))
+ (inputs
+ (list bcftools
+ bedtools
+ gfaffix
+ guile-3.0 ; for wrap-script
+ fastix
+ multiqc
+ mummer
+ odgi-hwcaps
+ pafplot
+ parallel
+ pigz
+ python-igraph
+ python-pycairo
+ python-wrapper
+ r-data-table
+ rtg-tools
+ samtools
+ seqwish
+ smoothxg
+ ;tabix
+ vcfbub
+ vcflib
+ vg
+ wfmash-hwcaps))
+ (home-page "https://doi.org/10.1101/2023.04.05.535718")
+ (synopsis "PanGenome Graph Builder")
+ (description "@command{pggb} builds
+@url{https://doi.org/10.1146%2Fannurev-genom-120219-080406, pangenome}
+@url{https://doi.org/10.1038/nbt.4227, variation graphs} from a set of input
+sequences.
+A pangenome variation graph is a kind of generic multiple sequence alignment.
+It lets us understand any kind of sequence variation between a collection of
+genomes. It shows us similarity where genomes walk through the same parts of
+the graph, and differences where they do not.
+@command{pggb} generates this kind of graph using an all-to-all alignment of
+input sequences (@url{https://github.com/waveygang/wfmash, wfmash}), graph
+induction (@url{https://doi.org/10.1101/2022.02.14.480413, seqwish}), and
+progressive normalization (@url{https://github.com/pangenome/smoothxg,
+smoothxg}, @url{https://github.com/marschall-lab/GFAffix, gfaffix}). After
+construction, @command{pggb} generates diagnostic visualizations of the graph
+(@url{https://doi.org/10.1093/bioinformatics/btac308, odgi}). A variant call
+report (in VCF) representing both small and large variants can be generated
+based on any reference genome included in the graph
+(@url{https://github.com/vgteam/vg, vg}). @command{pggb} writes its output in
+@url{https://github.com/GFA-spec/GFA-spec/blob/master/GFA1.md, GFAv1} format,
+which can be used as input by numerous \"genome graph\" and pangenome tools,
+such as the @url{https://github.com/vgteam/vg, vg} and
+@url{https://doi.org/10.1093/bioinformatics/btac308, odgi} toolkits.
+@command{pggb} has been tested at scale in the @acronym{Human Pangenome
+Reference Consortium, HPRC} as a method to build a graph from the
+@url{https://doi.org/10.1101/2022.07.09.499321, draft human pangenome}.")
+ (license license:expat))))
+
(define-public ucsc-genome-browser
(package
(name "ucsc-genome-browser")