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-rw-r--r--gnu/packages/bioinformatics.scm138
1 files changed, 138 insertions, 0 deletions
diff --git a/gnu/packages/bioinformatics.scm b/gnu/packages/bioinformatics.scm
index 8ed871003a..1214a0b708 100644
--- a/gnu/packages/bioinformatics.scm
+++ b/gnu/packages/bioinformatics.scm
@@ -27,6 +27,7 @@
#:use-module (gnu packages)
#:use-module (gnu packages base)
#:use-module (gnu packages compression)
+ #:use-module (gnu packages java)
#:use-module (gnu packages ncurses)
#:use-module (gnu packages perl)
#:use-module (gnu packages pkg-config)
@@ -237,6 +238,53 @@ gapped, local, and paired-end alignment modes.")
(supported-systems '("x86_64-linux"))
(license license:gpl3+)))
+(define-public bwa
+ (package
+ (name "bwa")
+ (version "0.7.12")
+ (source (origin
+ (method url-fetch)
+ (uri (string-append "mirror://sourceforge/bio-bwa/bwa-"
+ version ".tar.bz2"))
+ (sha256
+ (base32
+ "1330dpqncv0px3pbhjzz1gwgg39kkcv2r9qp2xs0sixf8z8wl7bh"))))
+ (build-system gnu-build-system)
+ (arguments
+ '(#:tests? #f ;no "check" target
+ #:phases
+ (alist-replace
+ 'install
+ (lambda* (#:key outputs #:allow-other-keys)
+ (let ((bin (string-append
+ (assoc-ref outputs "out") "/bin"))
+ (doc (string-append
+ (assoc-ref outputs "out") "/share/doc/bwa"))
+ (man (string-append
+ (assoc-ref outputs "out") "/share/man/man1")))
+ (mkdir-p bin)
+ (mkdir-p doc)
+ (mkdir-p man)
+ (copy-file "bwa" (string-append bin "/bwa"))
+ (copy-file "README.md" (string-append doc "/README.md"))
+ (copy-file "bwa.1" (string-append man "/bwa.1"))))
+ ;; no "configure" script
+ (alist-delete 'configure %standard-phases))))
+ (inputs `(("zlib" ,zlib)))
+ (home-page "http://bio-bwa.sourceforge.net/")
+ (synopsis "Burrows-Wheeler sequence aligner")
+ (description
+ "BWA is a software package for mapping low-divergent sequences against a
+large reference genome, such as the human genome. It consists of three
+algorithms: BWA-backtrack, BWA-SW and BWA-MEM. The first algorithm is
+designed for Illumina sequence reads up to 100bp, while the rest two for
+longer sequences ranged from 70bp to 1Mbp. BWA-MEM and BWA-SW share similar
+features such as long-read support and split alignment, but BWA-MEM, which is
+the latest, is generally recommended for high-quality queries as it is faster
+and more accurate. BWA-MEM also has better performance than BWA-backtrack for
+70-100bp Illumina reads.")
+ (license license:gpl3+)))
+
(define-public clipper
(package
(name "clipper")
@@ -446,6 +494,51 @@ particular, reads spanning multiple exons.")
from high-throughput sequencing assays.")
(license license:gpl3+)))
+(define-public htsjdk
+ (package
+ (name "htsjdk")
+ (version "1.129")
+ (source (origin
+ (method url-fetch)
+ (uri (string-append
+ "https://github.com/samtools/htsjdk/archive/"
+ version ".tar.gz"))
+ (file-name (string-append name "-" version ".tar.gz"))
+ (sha256
+ (base32
+ "0asdk9b8jx2ij7yd6apg9qx03li8q7z3ml0qy2r2qczkra79y6fw"))
+ (modules '((guix build utils)))
+ ;; remove build dependency on git
+ (snippet '(substitute* "build.xml"
+ (("failifexecutionfails=\"true\"")
+ "failifexecutionfails=\"false\"")))))
+ (build-system gnu-build-system)
+ (arguments
+ `(#:modules ((srfi srfi-1)
+ (guix build gnu-build-system)
+ (guix build utils))
+ #:phases (alist-replace
+ 'build
+ (lambda _
+ (setenv "JAVA_HOME" (assoc-ref %build-inputs "jdk"))
+ (zero? (system* "ant" "all"
+ (string-append "-Ddist="
+ (assoc-ref %outputs "out")
+ "/share/java/htsjdk/"))))
+ (fold alist-delete %standard-phases
+ '(configure install check)))))
+ (native-inputs
+ `(("ant" ,ant)
+ ("jdk" ,icedtea6 "jdk")))
+ (home-page "http://samtools.github.io/htsjdk/")
+ (synopsis "Java API for high-throughput sequencing data (HTS) formats")
+ (description
+ "HTSJDK is an implementation of a unified Java library for accessing
+common file formats, such as SAM and VCF, used for high-throughput
+sequencing (HTS) data. There are also an number of useful utilities for
+manipulating HTS data.")
+ (license license:expat)))
+
(define-public macs
(package
(name "macs")
@@ -477,6 +570,51 @@ resolution of binding sites through combining the information of both
sequencing tag position and orientation.")
(license license:bsd-3)))
+(define-public miso
+ (package
+ (name "miso")
+ (version "0.5.3")
+ (source (origin
+ (method url-fetch)
+ (uri (string-append
+ "http://pypi.python.org/packages/source/m/misopy/misopy-"
+ version ".tar.gz"))
+ (sha256
+ (base32
+ "0x446867az8ir0z8c1vjqffkp0ma37wm4sylixnkhgawllzx8v5w"))
+ (modules '((guix build utils)))
+ ;; use "gcc" instead of "cc" for compilation
+ (snippet
+ '(substitute* "setup.py"
+ (("^defines")
+ "cc.set_executables(
+compiler='gcc',
+compiler_so='gcc',
+linker_exe='gcc',
+linker_so='gcc -shared'); defines")))))
+ (build-system python-build-system)
+ (arguments
+ `(#:python ,python-2 ; only Python 2 is supported
+ #:tests? #f)) ; no "test" target
+ (inputs
+ `(("samtools" ,samtools)
+ ("python-numpy" ,python2-numpy)
+ ("python-pysam" ,python2-pysam)
+ ("python-scipy" ,python2-scipy)
+ ("python-matplotlib" ,python2-matplotlib)))
+ (native-inputs
+ `(("python-setuptools" ,python2-setuptools)))
+ (home-page "http://genes.mit.edu/burgelab/miso/index.html")
+ (synopsis "Mixture of Isoforms model for RNA-Seq isoform quantitation")
+ (description
+ "MISO (Mixture-of-Isoforms) is a probabilistic framework that quantitates
+the expression level of alternatively spliced genes from RNA-Seq data, and
+identifies differentially regulated isoforms or exons across samples. By
+modeling the generative process by which reads are produced from isoforms in
+RNA-Seq, the MISO model uses Bayesian inference to compute the probability
+that a read originated from a particular isoform.")
+ (license license:gpl2)))
+
(define-public rseqc
(package
(name "rseqc")