htslib 0.0.10 → 0.2.1
This diff represents the content of publicly available package versions that have been released to one of the supported registries. The information contained in this diff is provided for informational purposes only and reflects changes between package versions as they appear in their respective public registries.
- checksums.yaml +4 -4
- data/README.md +46 -27
- data/lib/hts/bam/aux.rb +40 -0
- data/lib/hts/bam/cigar.rb +5 -10
- data/lib/hts/bam/flag.rb +26 -57
- data/lib/hts/bam/header.rb +2 -4
- data/lib/hts/bam/record.rb +94 -47
- data/lib/hts/bam.rb +125 -37
- data/lib/hts/bcf/format.rb +84 -13
- data/lib/hts/bcf/header.rb +1 -0
- data/lib/hts/bcf/header_record.rb +11 -0
- data/lib/hts/bcf/info.rb +57 -31
- data/lib/hts/bcf/record.rb +63 -35
- data/lib/hts/bcf.rb +204 -30
- data/lib/hts/faidx.rb +62 -24
- data/lib/hts/ffi_ext/pointer.rb +18 -0
- data/lib/hts/hts.rb +71 -6
- data/lib/hts/libhts/bgzf.rb +5 -5
- data/lib/hts/libhts/constants.rb +45 -23
- data/lib/hts/libhts/cram.rb +295 -292
- data/lib/hts/libhts/hfile.rb +29 -11
- data/lib/hts/libhts/hts.rb +158 -25
- data/lib/hts/libhts/sam.rb +683 -94
- data/lib/hts/libhts/sam_funcs.rb +131 -588
- data/lib/hts/libhts/vcf.rb +433 -220
- data/lib/hts/libhts/vcf_funcs.rb +258 -424
- data/lib/hts/libhts.rb +5 -0
- data/lib/hts/{tabix.rb → tbx.rb} +6 -14
- data/lib/hts/version.rb +1 -1
- data/lib/htslib.rb +1 -1
- data/vendor/libhts.dylib +0 -0
- metadata +12 -8
checksums.yaml
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---
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SHA256:
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metadata.gz:
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metadata.gz:
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data.tar.gz: c62b5c7e95ba91a9f465b6822170c0faa05cf9626af8c63c486ecb55edb1af7f3d841cfa8b2d5adcd9cd1ac6df75088b85ea3145ae78a645eb2b7e3390ca11bd
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data/README.md
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[](https://zenodo.org/badge/latestdoi/247078205)
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[](https://rubydoc.info/gems/htslib)
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Ruby-htslib is the [Ruby](https://www.ruby-lang.org) bindings to [HTSlib](https://github.com/samtools/htslib), a C library for high-throughput sequencing data formats. It allows you to read and write file formats commonly used in genomics, such as [SAM, BAM, VCF, and BCF](http://samtools.github.io/hts-specs/) in the Ruby language.
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Ruby-htslib is the [Ruby](https://www.ruby-lang.org) bindings to [HTSlib](https://github.com/samtools/htslib), a C library for high-throughput sequencing data formats. It allows you to read and write file formats commonly used in genomics, such as [SAM, BAM, VCF, and BCF](http://samtools.github.io/hts-specs/), in the Ruby language.
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:apple: Feel free to fork it out if you can develop it!
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:bowtie:
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:bowtie: Alpha stage.
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## Requirements
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* [Ruby](https://github.com/ruby/ruby)
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* [Ruby](https://github.com/ruby/ruby) 3.1 or above.
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* [HTSlib](https://github.com/samtools/htslib)
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* Ubuntu : `apt install libhts-dev`
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* macOS : `brew install htslib`
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```
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If you have installed htslib with apt on Ubuntu or homebrew on Mac, [pkg-config](https://github.com/ruby-gnome/pkg-config)
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will automatically detect the location of the shared library.
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will automatically detect the location of the shared library. If pkg-config does not work well, set `PKG_CONFIG_PATH`.
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Alternatively, you can specify the directory of the shared library by setting the environment variable `HTSLIBDIR`.
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```sh
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```ruby
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require 'htslib'
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bam = HTS::Bam.open("
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bam = HTS::Bam.open("test/fixtures/moo.bam")
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bam.each do |r|
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pp name: r.qname,
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flag: r.flag,
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chrm: r.chrom,
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strt: r.pos + 1,
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mapq: r.mapq,
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cigr: r.cigar.to_s,
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mchr: r.mate_chrom,
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mpos: r.mpos + 1,
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isiz: r.isize,
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seqs: r.seq,
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qual: r.qual.map { |i| (i + 33).chr }.join,
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MC: r.aux("MC")
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end
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bam.close
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qual: r.qual.round(2),
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ref: r.ref,
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alt: r.alt,
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filter: r.filter
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filter: r.filter,
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info: r.info.to_h,
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format: r.format.to_h
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end
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bcf.close
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```
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<details>
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<summary><b>Faidx</b></summary>
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```ruby
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fa = HTS::Faidx.open("c.fa")
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fa.fetch("chr1:1-10")
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fa.close
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```
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</details>
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### Low level API
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`HTS::LibHTS` provides native
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`HTS::LibHTS` provides native C functions.
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```ruby
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require 'htslib'
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p b[:format]
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```
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Note: htslib makes extensive use of macro functions for speed.
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Note: htslib makes extensive use of macro functions for speed. You cannot use C macro functions in Ruby if they are not reimplemented in ruby-htslib. Only small number of C structs are implemented with FFI's ManagedStruct, which frees memory when Ruby's garbage collection fires. Other structs will need to be freed manually.
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### Need more speed?
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Try Crystal. [htslib.cr](https://github.com/bio-crystal/htslib.cr) is implemented in Crystal language and provides an API compatible with ruby-htslib.
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Try Crystal. [htslib.cr](https://github.com/bio-crystal/htslib.cr) is implemented in Crystal language and provides an API compatible with ruby-htslib. Crystal language is not as flexible as Ruby language. You can not use `eval` methods, and you must always be careful with the data types. Writing one-time scripts in Crystal or playing with REPL may not be as much fun. However, if you have a clear idea of what you want to do in your mind, have already written code in Ruby, and need to run them over and over, try creating a command line tool in Crystal. The Crystal language is fast, as fast as the Rust and C languages. It will give you great power to create tools.
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## Documentation
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Many macro functions are used in HTSlib. Since these macro functions cannot be called using FFI, they must be reimplemented in Ruby.
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*
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*
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* Use the new version of Ruby to take full advantage of Ruby's potential.
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* This is possible because we have a small number of users. What a deal!
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* Remain compatible with [htslib.cr](https://github.com/bio-crystal/htslib.cr).
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* The most challenging part is the return value. In the Crystal language, methods are expected to return only one type. On the other hand, in the Ruby language, methods that return multiple classes are very common. For example, in the Crystal language, the compiler gets confused if the return value is one of six types: Int32, Int64, Float32, Float64, Nil, or String. In fact Crystal can do this. But the code gets a little messy. In Ruby, this is very common and doesn't cause any problems.
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In the script directory, there are several tools to help implement ruby-htslib. These tools may be forked into independent repository in the future.
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#### FFI Extensions
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* Suggest or add new features
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* [financial contributions](https://github.com/sponsors/kojix2)
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```
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# Ownership and Commitment Rights
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Do you need commit rights to ruby-htslib repository?
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Do you want to get admin rights and take over the project?
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If so, please feel free to contact us @kojix2.
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#### Why do you implement htslib in a language like Ruby, which is not widely used in the bioinformatics?
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One of the greatest joys of using a minor language like Ruby in bioinformatics is that there is nothing stopping you from reinventing the wheel. Reinventing the wheel can be fun. But with languages like Python and R, where many bioinformatics masters work, there is no chance left for beginners to create htslib bindings. Bioinformatics file formats, libraries and tools are very complex and I don't know how to understand them. So I wanted to implement the HTSLib binding myself to better understand how the pioneers of bioinformatics felt when establishing the file format and how they created their tools.
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One of the greatest joys of using a minor language like Ruby in bioinformatics is that there is nothing stopping you from reinventing the wheel. Reinventing the wheel can be fun. But with languages like Python and R, where many bioinformatics masters work, there is no chance left for beginners to create htslib bindings. Bioinformatics file formats, libraries and tools are very complex and I don't know how to understand them. So I wanted to implement the HTSLib binding myself to better understand how the pioneers of bioinformatics felt when establishing the file format and how they created their tools. I hope one day we can work on bioinformatics using Ruby and Crystal languages, not to replace other languages such as Python and R, but to add new power and value to this advancing field.
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## Links
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data/lib/hts/bam/aux.rb
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# frozen_string_literal: true
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module HTS
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class Bam < Hts
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# Auxiliary record data
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class Aux
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def initialize(record)
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@record = record
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end
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def get(key, type = nil)
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aux = LibHTS.bam_aux_get(@record.struct, key)
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return nil if aux.null?
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type ||= aux.read_string(1)
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# A (character), B (general array),
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# f (real number), H (hexadecimal array),
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# i (integer), or Z (string).
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case type
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when "i", "I", "c", "C", "s", "S"
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LibHTS.bam_aux2i(aux)
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when "f", "d"
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LibHTS.bam_aux2f(aux)
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when "Z", "H"
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LibHTS.bam_aux2Z(aux)
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when "A" # char
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LibHTS.bam_aux2A(aux).chr
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else
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raise NotImplementedError, "type: #{t}"
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end
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end
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def [](key)
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get(key)
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end
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end
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end
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end
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data/lib/hts/bam/cigar.rb
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# frozen_string_literal: true
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# Based on hts-python
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# https://github.com/quinlan-lab/hts-python
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module HTS
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class Bam < Hts
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# CIGAR string
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class Cigar
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include Enumerable
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def initialize(pointer, n_cigar)
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@pointer = pointer
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@n_cigar = n_cigar
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@pointer
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# Read the pointer before the memory is changed.
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# Especially when called from a block of `each` iterator.
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@c = pointer.read_array_of_uint32(n_cigar)
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end
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def to_s
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def each
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return to_enum(__method__) unless block_given?
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c = @pointer[i].read_uint32
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@c.each do |c|
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op = LibHTS.bam_cigar_opchr(c)
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len = LibHTS.bam_cigar_oplen(c)
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yield [op, len]
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data/lib/hts/bam/flag.rb
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class Bam < Hts
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# SAM flags
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class Flag
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def initialize(flag_value)
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raise TypeError unless flag_value.is_a? Integer
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# BAM_FDUP = 1024
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# BAM_FSUPPLEMENTARY = 2048
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# TODO: Enabling bitwise operations
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end
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def mate_unmapped?
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has_flag? LibHTS::BAM_FMUNMAP
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end
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def reverse?
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has_flag? LibHTS::BAM_FREVERSE
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end
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def mate_reverse?
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has_flag? LibHTS::BAM_FMREVERSE
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end
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def read1?
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has_flag? LibHTS::BAM_FREAD1
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end
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def read2?
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has_flag? LibHTS::BAM_FREAD2
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end
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def secondary?
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has_flag? LibHTS::BAM_FSECONDARY
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end
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def qcfail?
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has_flag? LibHTS::BAM_FQCFAIL
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end
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def dup?
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has_flag? LibHTS::BAM_FDUP
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# TODO: Enabling bitwise operations?
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TABLE = { paired?: LibHTS::BAM_FPAIRED,
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proper_pair?: LibHTS::BAM_FPROPER_PAIR,
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unmapped?: LibHTS::BAM_FUNMAP,
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mate_unmapped?: LibHTS::BAM_FMUNMAP,
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reverse?: LibHTS::BAM_FREVERSE,
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mate_reverse?: LibHTS::BAM_FMREVERSE,
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read1?: LibHTS::BAM_FREAD1,
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read2?: LibHTS::BAM_FREAD2,
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secondary?: LibHTS::BAM_FSECONDARY,
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qcfail?: LibHTS::BAM_FQCFAIL,
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duplicate?: LibHTS::BAM_FDUP,
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supplementary?: LibHTS::BAM_FSUPPLEMENTARY }.freeze
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TABLE.each do |name, v|
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define_method(name) do
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has_flag?(v)
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end
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end
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def
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def has_flag?(f)
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(@value & f) != 0
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end
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def
|
89
|
-
|
56
|
+
def to_i
|
57
|
+
@value
|
90
58
|
end
|
91
59
|
|
92
60
|
def to_s
|
93
|
-
|
61
|
+
LibHTS.bam_flag2str(@value)
|
62
|
+
# "0x#{format('%x', @value)}\t#{@value}\t#{LibHTS.bam_flag2str(@value)}"
|
94
63
|
end
|
95
64
|
end
|
96
65
|
end
|
data/lib/hts/bam/header.rb
CHANGED
@@ -1,10 +1,8 @@
|
|
1
1
|
# frozen_string_literal: true
|
2
2
|
|
3
|
-
# Based on hts-python
|
4
|
-
# https://github.com/quinlan-lab/hts-python
|
5
|
-
|
6
3
|
module HTS
|
7
4
|
class Bam < Hts
|
5
|
+
# A class for working with alignment header.
|
8
6
|
class Header
|
9
7
|
def initialize(hts_file)
|
10
8
|
@sam_hdr = LibHTS.sam_hdr_read(hts_file)
|
@@ -28,7 +26,7 @@ module HTS
|
|
28
26
|
end
|
29
27
|
end
|
30
28
|
|
31
|
-
def
|
29
|
+
def target_len
|
32
30
|
Array.new(target_count) do |i|
|
33
31
|
LibHTS.sam_hdr_tid2len(@sam_hdr, i)
|
34
32
|
end
|
data/lib/hts/bam/record.rb
CHANGED
@@ -1,10 +1,12 @@
|
|
1
1
|
# frozen_string_literal: true
|
2
2
|
|
3
|
-
|
4
|
-
|
3
|
+
require_relative "flag"
|
4
|
+
require_relative "cigar"
|
5
|
+
require_relative "aux"
|
5
6
|
|
6
7
|
module HTS
|
7
8
|
class Bam < Hts
|
9
|
+
# A class for working with alignment records.
|
8
10
|
class Record
|
9
11
|
SEQ_NT16_STR = "=ACMGRSVTWYHKDBN"
|
10
12
|
|
@@ -38,26 +40,52 @@ module HTS
|
|
38
40
|
@bam1[:core][:tid]
|
39
41
|
end
|
40
42
|
|
43
|
+
def tid=(tid)
|
44
|
+
@bam1[:core][:tid] = tid
|
45
|
+
end
|
46
|
+
|
41
47
|
# returns the tid of the mate or -1 if not mapped.
|
42
|
-
def
|
48
|
+
def mtid
|
43
49
|
@bam1[:core][:mtid]
|
44
50
|
end
|
45
51
|
|
52
|
+
def mtid=(mtid)
|
53
|
+
@bam1[:core][:mtid] = mtid
|
54
|
+
end
|
55
|
+
|
46
56
|
# returns 0-based start position.
|
47
|
-
def
|
57
|
+
def pos
|
48
58
|
@bam1[:core][:pos]
|
49
59
|
end
|
50
60
|
|
51
|
-
|
52
|
-
|
53
|
-
LibHTS.bam_endpos @bam1
|
61
|
+
def pos=(pos)
|
62
|
+
@bam1[:core][:pos] = pos
|
54
63
|
end
|
55
64
|
|
56
65
|
# returns 0-based mate position
|
57
|
-
def
|
66
|
+
def mate_pos
|
58
67
|
@bam1[:core][:mpos]
|
59
68
|
end
|
60
|
-
|
69
|
+
|
70
|
+
def mate_pos=(mpos)
|
71
|
+
@bam1[:core][:mpos] = mpos
|
72
|
+
end
|
73
|
+
|
74
|
+
alias mpos mate_pos
|
75
|
+
alias mpos= mate_pos=
|
76
|
+
|
77
|
+
def bin
|
78
|
+
@bam1[:core][:bin]
|
79
|
+
end
|
80
|
+
|
81
|
+
def bin=(bin)
|
82
|
+
@bam1[:core][:bin] = bin
|
83
|
+
end
|
84
|
+
|
85
|
+
# returns end position of the read.
|
86
|
+
def endpos
|
87
|
+
LibHTS.bam_endpos @bam1
|
88
|
+
end
|
61
89
|
|
62
90
|
# returns the chromosome or '' if not mapped.
|
63
91
|
def chrom
|
@@ -66,37 +94,43 @@ module HTS
|
|
66
94
|
LibHTS.sam_hdr_tid2name(@header, tid)
|
67
95
|
end
|
68
96
|
|
69
|
-
|
70
|
-
def contig
|
71
|
-
chrom
|
72
|
-
end
|
97
|
+
alias contig chrom
|
73
98
|
|
74
99
|
# returns the chromosome of the mate or '' if not mapped.
|
75
100
|
def mate_chrom
|
76
|
-
mtid = mate_tid
|
77
101
|
return "" if mtid == -1
|
78
102
|
|
79
103
|
LibHTS.sam_hdr_tid2name(@header, mtid)
|
80
104
|
end
|
81
105
|
|
106
|
+
alias mate_contig mate_chrom
|
107
|
+
|
108
|
+
# Get strand information.
|
82
109
|
def strand
|
83
110
|
LibHTS.bam_is_rev(@bam1) ? "-" : "+"
|
84
111
|
end
|
85
112
|
|
86
|
-
# def start=(v)
|
87
|
-
# raise 'Not Implemented'
|
88
|
-
# end
|
89
|
-
|
90
113
|
# insert size
|
91
114
|
def insert_size
|
92
115
|
@bam1[:core][:isize]
|
93
116
|
end
|
94
117
|
|
118
|
+
def insert_size=(isize)
|
119
|
+
@bam1[:core][:isize] = isize
|
120
|
+
end
|
121
|
+
|
122
|
+
alias isize insert_size
|
123
|
+
alias isize= insert_size=
|
124
|
+
|
95
125
|
# mapping quality
|
96
|
-
def
|
126
|
+
def mapq
|
97
127
|
@bam1[:core][:qual]
|
98
128
|
end
|
99
129
|
|
130
|
+
def mapq=(mapq)
|
131
|
+
@bam1[:core][:qual] = mapq
|
132
|
+
end
|
133
|
+
|
100
134
|
# returns a `Cigar` object.
|
101
135
|
def cigar
|
102
136
|
Cigar.new(LibHTS.bam_get_cigar(@bam1), @bam1[:core][:n_cigar])
|
@@ -117,7 +151,7 @@ module HTS
|
|
117
151
|
end
|
118
152
|
|
119
153
|
# return the read sequence
|
120
|
-
def
|
154
|
+
def seq
|
121
155
|
r = LibHTS.bam_get_seq(@bam1)
|
122
156
|
seq = String.new
|
123
157
|
(@bam1[:core][:l_qseq]).times do |i|
|
@@ -125,64 +159,77 @@ module HTS
|
|
125
159
|
end
|
126
160
|
seq
|
127
161
|
end
|
162
|
+
alias sequence seq
|
163
|
+
|
164
|
+
def len
|
165
|
+
@bam1[:core][:l_qseq]
|
166
|
+
end
|
128
167
|
|
129
168
|
# return only the base of the requested index "i" of the query sequence.
|
130
|
-
def
|
169
|
+
def base(n)
|
131
170
|
n += @bam1[:core][:l_qseq] if n < 0
|
132
|
-
return "." if (n >= @bam1[:core][:l_qseq]) || (n < 0) # eg.
|
171
|
+
return "." if (n >= @bam1[:core][:l_qseq]) || (n < 0) # eg. base(-1000)
|
133
172
|
|
134
173
|
r = LibHTS.bam_get_seq(@bam1)
|
135
174
|
SEQ_NT16_STR[LibHTS.bam_seqi(r, n)]
|
136
175
|
end
|
137
176
|
|
138
177
|
# return the base qualities
|
139
|
-
def
|
178
|
+
def qual
|
140
179
|
q_ptr = LibHTS.bam_get_qual(@bam1)
|
141
180
|
q_ptr.read_array_of_uint8(@bam1[:core][:l_qseq])
|
142
181
|
end
|
143
182
|
|
144
183
|
# return only the base quality of the requested index "i" of the query sequence.
|
145
|
-
def
|
184
|
+
def base_qual(n)
|
146
185
|
n += @bam1[:core][:l_qseq] if n < 0
|
147
|
-
return 0 if (n >= @bam1[:core][:l_qseq]) || (n < 0) # eg.
|
186
|
+
return 0 if (n >= @bam1[:core][:l_qseq]) || (n < 0) # eg. base_qual(-1000)
|
148
187
|
|
149
188
|
q_ptr = LibHTS.bam_get_qual(@bam1)
|
150
189
|
q_ptr.get_uint8(n)
|
151
190
|
end
|
152
191
|
|
153
|
-
def flag_str
|
154
|
-
LibHTS.bam_flag2str(@bam1[:core][:flag])
|
155
|
-
end
|
156
|
-
|
157
192
|
# returns a `Flag` object.
|
158
193
|
def flag
|
159
194
|
Flag.new(@bam1[:core][:flag])
|
160
195
|
end
|
161
196
|
|
162
|
-
def
|
163
|
-
|
164
|
-
|
197
|
+
def flag=(flag)
|
198
|
+
case flag
|
199
|
+
when Integer
|
200
|
+
@bam1[:core][:flag] = flag
|
201
|
+
when Flag
|
202
|
+
@bam1[:core][:flag] = flag.value
|
203
|
+
else
|
204
|
+
raise "Invalid flag type: #{flag.class}"
|
205
|
+
end
|
206
|
+
end
|
207
|
+
|
208
|
+
# retruns the auxillary fields.
|
209
|
+
def aux(key = nil)
|
210
|
+
aux = Aux.new(self)
|
211
|
+
if key
|
212
|
+
aux.get(key)
|
213
|
+
else
|
214
|
+
aux
|
215
|
+
end
|
216
|
+
end
|
217
|
+
|
218
|
+
# TODO: add a method to get the auxillary fields as a hash.
|
165
219
|
|
166
|
-
|
220
|
+
# TODO: add a method to set the auxillary fields.
|
167
221
|
|
168
|
-
|
169
|
-
# f (real number), H (hexadecimal array),
|
170
|
-
# i (integer), or Z (string).
|
222
|
+
# TODO: add a method to remove the auxillary fields.
|
171
223
|
|
172
|
-
|
173
|
-
|
174
|
-
|
175
|
-
|
176
|
-
|
177
|
-
|
178
|
-
LibHTS.bam_aux2Z(aux)
|
179
|
-
when "A" # char
|
180
|
-
LibHTS.bam_aux2A(aux).chr
|
224
|
+
# TODO: add a method to set variable length data (qname, cigar, seq, qual).
|
225
|
+
|
226
|
+
# Calling flag is delegated to the Flag object.
|
227
|
+
Flag::TABLE.each_key do |m|
|
228
|
+
define_method(m) do
|
229
|
+
flag.send(m)
|
181
230
|
end
|
182
231
|
end
|
183
232
|
|
184
|
-
# def tags; end
|
185
|
-
|
186
233
|
def to_s
|
187
234
|
kstr = LibHTS::KString.new
|
188
235
|
raise "Failed to format bam record" if LibHTS.sam_format1(@header.struct, @bam1, kstr) == -1
|