diff options
-rw-r--r-- | gn/packages/bioinformatics.scm | 181 |
1 files changed, 180 insertions, 1 deletions
diff --git a/gn/packages/bioinformatics.scm b/gn/packages/bioinformatics.scm index d37a287..295a2b3 100644 --- a/gn/packages/bioinformatics.scm +++ b/gn/packages/bioinformatics.scm @@ -49,6 +49,56 @@ #:use-module (gn packages statistics) #:use-module (srfi srfi-1)) +(define-public freec + (package + (name "control-freec") + (version "8.7") + (source (origin + (method url-fetch) + (uri "http://bioinfo-out.curie.fr/projects/freec/src/FREEC_Linux64.tar.gz") + (file-name (string-append name "-" version ".tar.gz")) + (sha256 + (base32 "12sl7gxbklhvv0687qjhml1z4lwpcn159zcyxvawvclsrzqjmv0h")))) + (build-system gnu-build-system) + ;; The source code's filename indicates only a 64-bit Linux build. + ;; We need to investigate whether this is true. + (supported-systems '("x86_64-linux")) + (arguments + `(#:phases + (modify-phases %standard-phases + ;; There's no configure phase because there are no external + ;; dependencies. + (delete 'configure) + ;; There are no tests. + (delete 'check) + (replace + 'unpack + (lambda* (#:key source #:allow-other-keys) + (and + (zero? (system* "mkdir" "source")) + (with-directory-excursion "source" + (zero? (system* "tar" "xvf" source)))))) + (replace + 'build + (lambda* (#:key inputs #:allow-other-keys) + (with-directory-excursion "source" + (zero? (system* "make"))))) + (replace + 'install + (lambda* (#:key outputs #:allow-other-keys) + (let ((bin (string-append (assoc-ref outputs "out") "/bin"))) + (install-file "source/freec" bin))))))) + (home-page "http://bioinfo-out.curie.fr/projects/freec/") + (synopsis "Tool for detection of copy-number changes and allelic imbalances +(including LOH) using deep-sequencing data") + (description "Control-FREEC automatically computes, normalizes, segments +copy number and beta allele frequency (BAF) profiles, then calls copy number +alterations and LOH. The control (matched normal) sample is optional for whole +genome sequencing data but mandatory for whole exome or targeted sequencing +data. For whole genome sequencing data analysis, the program can also use +mappability data (files created by GEM). ") + (license license:gpl2+))) + (define-public freebayes (let ((commit "3ce827d8ebf89bb3bdc097ee0fe7f46f9f30d5fb")) (package @@ -213,7 +263,7 @@ find small polymorphisms, specifically SNPs (single-nucleotide polymorphisms), indels (insertions and deletions), MNPs (multi-nucleotide polymorphisms), and complex events (composite insertion and substitution events) smaller than the length of a short-read sequencing alignment.") - (license license:non-copyleft)))) + (license license:expat)))) (define-public r-biocpreprocesscore (package @@ -614,3 +664,132 @@ supported.") (description "FastQC aims to provide a QC report which can spot problems which originate either in the sequencer or in the starting library material. It can either run as a stand alone interactive application for the immediate analysis of small numbers of FastQ files, or it can be run in a non-interactive mode where it would be suitable for integrating into a larger analysis pipeline for the systematic processing of large numbers of files.") (license license:gpl3+))) + +(define-public vcflib + (let ((commit "3ce827d8ebf89bb3bdc097ee0fe7f46f9f30d5fb")) + (package + (name "vcflib") + (version (string-append "v1.0.2-" (string-take commit 7))) + (source + (origin + (method url-fetch) + (uri (string-append "https://github.com/vcflib/vcflib/archive/" + "5ac091365fdc716cc47cc5410bb97ee5dc2a2c92" ".tar.gz")) + (file-name "vcflib-5ac0913.tar.gz") + (sha256 + (base32 "0ywshwpif059z5h0g7zzrdfzzdj2gr8xvwlwcsdxrms3p9iy35h8")))) + (build-system gnu-build-system) + (native-inputs + `(("htslib" ,htslib) + ("zlib" ,zlib) + ("python" ,python-2) + ("perl" ,perl) + ("tabixpp-src" + ,(origin + (method url-fetch) + (uri (string-append "https://github.com/ekg/tabixpp/archive/" + "bbc63a49acc52212199f92e9e3b8fba0a593e3f7" ".tar.gz")) + (file-name "tabixpp-src.tar.gz") + (sha256 + (base32 "1s06wmpgj4my4pik5kp2lc42hzzazbp5ism2y4i2ajp2y1c68g77")))) + ("intervaltree-src" + ,(origin + (method url-fetch) + (uri (string-append + "https://github.com/ekg/intervaltree/archive/" + "dbb4c513d1ad3baac516fc1484c995daf9b42838" ".tar.gz")) + (file-name "intervaltree-src.tar.gz") + (sha256 + (base32 "19prwpn2wxsrijp5svfqvfcxl5nj7zdhm3jycd5kqhl9nifpmcks")))) + ("smithwaterman-src" + ,(origin + (method url-fetch) + (uri (string-append "https://github.com/ekg/smithwaterman/archive/" + "203218b47d45ac56ef234716f1bd4c741b289be1" ".tar.gz")) + (file-name "smithwaterman-src.tar.gz") + (sha256 + (base32 "1lkxy4xkjn96l70jdbsrlm687jhisgw4il0xr2dm33qwcclzzm3b")))) + ("multichoose-src" + ,(origin + (method url-fetch) + (uri (string-append "https://github.com/ekg/multichoose/archive/" + "73d35daa18bf35729b9ba758041a9247a72484a5" ".tar.gz")) + (file-name "multichoose-src.tar.gz") + (sha256 + (base32 "07aizwdabmlnjaq4p3v0vsasgz1xzxid8xcxcw3paq8kh9c1099i")))) + ("fsom-src" + ,(origin + (method url-fetch) + (uri (string-append "https://github.com/ekg/fsom/archive/" + "a6ef318fbd347c53189384aef7f670c0e6ce89a3" ".tar.gz")) + (file-name "fsom-src.tar.gz") + (sha256 + (base32 "0q6b57ppxfvsm5cqmmbfmjpn5qvx2zi5pamvp3yh8gpmmz8cfbl3")))) + ("filevercmp-src" + ,(origin + (method url-fetch) + (uri (string-append "https://github.com/ekg/filevercmp/archive/" + "1a9b779b93d0b244040274794d402106907b71b7" ".tar.gz")) + (file-name "filevercmp-src.tar.gz") + (sha256 + (base32 "0yp5jswf5j2pqc6517x277s4s6h1ss99v57kxw9gy0jkfl3yh450")))) + ("fastahack-src" + ,(origin + (method url-fetch) + (uri (string-append "https://github.com/ekg/fastahack/archive/" + "c68cebb4f2e5d5d2b70cf08fbdf1944e9ab2c2dd" ".tar.gz")) + (file-name "fastahack-src.tar.gz") + (sha256 + (base32 "0j25lcl3jk1kls66zzxjfyq5ir6sfcvqrdwfcva61y3ajc9ssay2")))))) + (arguments + `(#:tests? #f + #:phases + (modify-phases %standard-phases + (delete 'configure) + (delete 'check) + (add-after 'unpack 'unpack-submodule-sources + (lambda* (#:key inputs #:allow-other-keys) + (let ((unpack (lambda (source target) + (with-directory-excursion target + (zero? (system* "tar" "xvf" + (assoc-ref inputs source) + "--strip-components=1")))))) + (and + (unpack "intervaltree-src" "intervaltree") + (unpack "fastahack-src" "fastahack") + (unpack "filevercmp-src" "filevercmp") + (unpack "fsom-src" "fsom") + (unpack "intervaltree-src" "intervaltree") + (unpack "multichoose-src" "multichoose") + (unpack "smithwaterman-src" "smithwaterman") + (unpack "tabixpp-src" "tabixpp"))))) + (add-after 'unpack-submodule-sources 'fix-makefile + (lambda* (#:key inputs #:allow-other-keys) + (substitute* '("Makefile") + (("^GIT_VERSION.*") "GIT_VERSION = v1.0.0")))) + (replace + 'build + (lambda* (#:key inputs make-flags #:allow-other-keys) + (with-directory-excursion "tabixpp" + (zero? (system* "make"))) + (zero? (system* "make" "CC=gcc" + (string-append "CFLAGS=\"" "-Itabixpp " + "-I" (assoc-ref inputs "htslib") "/include " "\"") "all")))) + (replace + 'install + (lambda* (#:key outputs #:allow-other-keys) + (let ((bin (string-append (assoc-ref outputs "out") "/bin")) + (lib (string-append (assoc-ref outputs "out") "/lib"))) + (for-each (lambda (file) + (install-file file bin)) + (find-files "bin" ".*")) + (install-file "libvcflib.a" lib))))))) + (home-page "https://github.com/vcflib/vcflib/") + (synopsis "Library for parsing and manipulating VCF files") + (description "Vcflib provides methods to manipulate and interpret +sequence variation as it can be described by VCF. It is both an API for parsing +and operating on records of genomic variation as it can be described by the VCF +format, and a collection of command-line utilities for executing complex +manipulations on VCF files.") + (license license:expat)))) + |