diff options
Diffstat (limited to 'gn/packages/bioinformatics.scm')
| -rw-r--r-- | gn/packages/bioinformatics.scm | 131 |
1 files changed, 126 insertions, 5 deletions
diff --git a/gn/packages/bioinformatics.scm b/gn/packages/bioinformatics.scm index 11a624f..a4d14b0 100644 --- a/gn/packages/bioinformatics.scm +++ b/gn/packages/bioinformatics.scm @@ -62,6 +62,113 @@ #:use-module (gnu packages bootstrap) #:use-module (srfi srfi-1)) +(define-public contra + (package + (name "contra") + (version "2.0.6") + (source (origin + (method url-fetch) + (uri (string-append + "mirror://sourceforge/contra-cnv/CONTRA.v" version ".tar.gz")) + (sha256 + (base32 + "0agpcm2xh5f0i9n9sx1kvln6mzdksddmh11bvzj6bh76yw5pnw91")))) + (build-system gnu-build-system) + (propagated-inputs + `(("python" ,python-2) + ("r" ,r) + ("r-dnacopy" ,r-dnacopy) + ("bedtools" ,bedtools) + ("samtools" ,samtools))) + (arguments + `(#:tests? #f ; There are no tests. + #:phases + (modify-phases %standard-phases + (delete 'configure) + (delete 'build) ; We can use Guix's BEDtools instead. + (replace 'install + (lambda _ + (let* ((out (assoc-ref %outputs "out")) + (bin (string-append out "/bin")) + (doc (string-append out "/share/doc/contra"))) + (mkdir-p bin) + (mkdir-p doc) + (and + (zero? (system* "cp" "--recursive" "scripts" bin)) + (zero? (system* "cp" "contra.py" bin)) + (zero? (system* "cp" "baseline.py" bin)) + ;; There's only a pre-built PDF available. + (zero? (system* "cp" "CONTRA_User_Guide.2.0.pdf" doc))))))))) + (home-page "http://contra-cnv.sourceforge.net/") + (synopsis "Tool for copy number variation (CNV) detection for targeted +resequencing data") + (description "CONTRA is a tool for copy number variation (CNV) detection +for targeted resequencing data such as those from whole-exome capture data. +CONTRA calls copy number gains and losses for each target region with key +strategies including the use of base-level log-ratios to remove GC-content +bias, correction for an imbalanced library size effect on log-ratios, and the +estimation of log-ratio variations via binning and interpolation. It takes +standard alignment formats (BAM/SAM) and outputs in variant call format +(VCF 4.0) for easy integration with other next generation sequencing analysis +package.") + (license license:gpl3+))) + +(define boost-delly + (package (inherit boost) + (name "boost-delly") + (version "1.57.0") + (source (origin + (method url-fetch) + (uri (string-append + "mirror://sourceforge/boost/boost_" + (string-map (lambda (x) (if (eq? x #\.) #\_ x)) version) + ".tar.bz2")) + (sha256 + (base32 + "0rs94vdmg34bwwj23fllva6mhrml2i7mvmlb11zyrk1k5818q34i")))))) + +(define-public delly + (package + (name "delly") + (version "0.7.2") + (source (origin + (method url-fetch) + (uri (string-append "https://github.com/tobiasrausch/delly/archive/v" + version ".tar.gz")) + (sha256 + (base32 "173mmg43dbxqkyq0kiffz63xbmggr2kzd55mwxci9yfh5md1zprn")) + (patches (list (search-patch "delly-use-system-libraries.patch"))))) + (build-system gnu-build-system) + (native-inputs + `(("python" ,python-2))) + (inputs + `(("boost" ,boost-delly) ; Use version 1.57.0 instead. + ("htslib" ,htslib) + ("zlib" ,zlib) + ("bzip2" ,bzip2))) + (arguments + `(#:tests? #f ; There are no tests to run. + #:phases + (modify-phases %standard-phases + (delete 'configure) ; There is no configure phase. + (replace 'install + (lambda _ + (let ((bin (string-append (assoc-ref %outputs "out") "/bin"))) + (install-file "src/cov" bin) + (install-file "src/delly" bin) + (install-file "src/extract" bin) + (install-file "src/iover" bin) + (install-file "src/stats" bin))))))) + (home-page "https://github.com/tobiasrausch/delly") + (synopsis "Integrated structural variant prediction method") + (description "Delly is an integrated structural variant prediction method +that can discover and genotype deletions, tandem duplications, inversions and +translocations at single-nucleotide resolution in short-read massively parallel +sequencing data. It uses paired-ends and split-reads to sensitively and +accurately delineate genomic rearrangements throughout the genome. Structural +variants can be visualized using Delly-maze and Delly-suave.") + (license license:gpl3))) + (define-public freec (package (name "control-freec") @@ -1141,15 +1248,19 @@ manipulations on VCF files.") ("python" ,python-2) ("perl" ,perl))) (arguments - `(#:tests? #f - #:phases + `(#:phases (modify-phases %standard-phases (delete 'configure) ; There is no configure phase. + ;; The build phase needs to run 'make' twice for the reasons described + ;; below. (replace 'build (lambda* (#:key inputs #:allow-other-keys) - ;; The first run creates a Makefile.local file. + ;; The first run creates a Makefile.local file. Make will report + ;; the failure to find Makefile.local, but we can ignore this error. (system* "make" (string-append "SAMTOOLS=" (assoc-ref inputs "samtools"))) - ;; The second run actually compiles the program. + ;; The second run actually compiles the program. Now Makefile.local + ;; is available, and we should treat an exiting make with an error as + ;; a true error. (zero? (system* "make")))) (replace 'install (lambda* (#:key outputs #:allow-other-keys) @@ -1157,7 +1268,17 @@ manipulations on VCF files.") (install-file "src/pindel" bin) (install-file "src/pindel2vcf" bin) (install-file "src/pindel2vcf4tcga" bin) - (install-file "src/sam2pindel" bin))))))) + (install-file "src/sam2pindel" bin)))) + ;; There are multiple test targets, so in order to run all + ;; tests, we must run the separate make targets. + (replace 'check + (lambda* (#:key inputs #:allow-other-keys) + (and + (zero? (system* "make" "acceptance-tests")) + (zero? (system* "make" "coverage-tests")) + (zero? (system* "make" "cppcheck")) + (zero? (system* "make" "functional-tests")) + (zero? (system* "make" "regression-tests")))))))) (home-page "https://github.com/genome/pindel") (synopsis "Structural variants detector for next-gen sequencing data") (description "Pindel can detect breakpoints of large deletions, medium sized |