htslib 0.2.2 → 0.2.5
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 +42 -22
- data/lib/hts/bam/{aux.rb → auxi.rb} +6 -0
- data/lib/hts/bam/header.rb +53 -2
- data/lib/hts/bam/header_record.rb +11 -0
- data/lib/hts/bam/record.rb +65 -24
- data/lib/hts/bam.rb +73 -66
- data/lib/hts/bcf/format.rb +4 -4
- data/lib/hts/bcf/header.rb +79 -2
- data/lib/hts/bcf/header_record.rb +35 -1
- data/lib/hts/bcf/info.rb +4 -4
- data/lib/hts/bcf.rb +85 -76
- data/lib/hts/hts.rb +2 -2
- data/lib/hts/libhts/constants.rb +36 -4
- data/lib/hts/libhts/cram.rb +39 -0
- data/lib/hts/libhts/sam_funcs.rb +16 -0
- data/lib/hts/libhts/tbx_funcs.rb +2 -0
- data/lib/hts/libhts/vcf.rb +84 -2
- data/lib/hts/libhts/vcf_funcs.rb +49 -8
- data/lib/hts/libhts.rb +2 -1
- data/lib/hts/tbx.rb +1 -5
- data/lib/hts/version.rb +1 -1
- data/lib/htslib.rb +16 -1
- metadata +6 -4
checksums.yaml
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data/README.md
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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
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:bowtie: Alpha stage.
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:apple: Feel free to fork it!
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## Requirements
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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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* Windows : [mingw-w64-htslib](https://packages.msys2.org/base/mingw-w64-htslib) is automatically fetched when installing the gem ([RubyInstaller](https://rubyinstaller.org) only).
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* Build from source code (see Development section)
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## Installation
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export HTSLIBDIR="/your/path/to/htslib" # libhts.so
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```
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ruby-htslib also works on Windows; if you use RubyInstaller, htslib will be prepared automatically.
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## Overview
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### High
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### High-level API
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HTS::Bam - SAM / BAM / CRAM - Sequence Alignment Map file
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```ruby
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require 'htslib'
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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.
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qual: r.qual_string,
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MC: r.aux("MC")
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end
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bam.close
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```
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HTS::Bcf - VCF / BCF - Variant Call Format file
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```ruby
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bcf = HTS::Bcf.open("b.bcf")
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</details>
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<details>
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<summary><b>Tbx</b></summary>
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```ruby
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```
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</details>
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### Low-level API
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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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Macro functions
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htslib has a lot of macro functions for speed. Ruby-FFI cannot call C macro functions. However, essential functions are reimplemented in Ruby, and you can call them.
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Structs
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Only a 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. [
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Try Crystal. [HTS.cr](https://github.com/bio-cr/hts.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 must always be careful with the types. Writing one-time scripts in Crystal may be less 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 as fast as the Rust and C languages. It will give you incredible power to make tools.
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## Documentation
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[GNU Autotools](https://en.wikipedia.org/wiki/GNU_Autotools) is required to compile htslib.
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HTSlib has many macro functions. These macro functions cannot be called from FFI and must be reimplemented in Ruby.
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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.
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* Remain compatible with [
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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
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* This is possible because we have a small number of users.
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* Remain compatible with [HTS.cr](https://github.com/bio-cr/hts.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 allows you to do that. But the code gets a little messy. In Ruby, this is very common and doesn't cause any problems.
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* Ruby and Crystal are languages that use garbage collection. However, the memory release policy for allocated C structures is slightly different: in Ruby-FFI, you can define a `self.release` method in `FFI::Struct`. This method is called when GC. So you don't have to worry about memory in high-level APIs like Bam::Record or Bcf::Record, etc. Crystal requires you to define a finalize method on each class. So you need to define it in Bam::Record or Bcf::Record.
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Method naming generally follows the Rust-htslib API.
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#### FFI Extensions
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* [ffi-bitfield](https://github.com/kojix2/ffi-bitfield) : Extension of Ruby-FFI to support bitfields.
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#### Automatic
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#### Automatic validation
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In the `script` directory, there are several tools to help implement ruby-htslib. Scripts using c2ffi can check the coverage of htslib functions in Ruby-htslib. They are useful when new versions of htslib are released.
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* [c2ffi](https://github.com/rpav/c2ffi) is a tool to create JSON format metadata from C header files.
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## Contributing
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Ruby-htslib is a library under development, so even
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Ruby-htslib is a library under development, so even minor improvements like typo fixes are welcome! Please feel free to send us your pull requests.
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* [Report bugs](https://github.com/kojix2/ruby-htslib/issues)
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* Fix bugs and [submit pull requests](https://github.com/kojix2/ruby-htslib/pulls)
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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 need commit rights to the 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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```
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#### Why do you implement htslib in a language like Ruby, which is not widely used in
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#### Why do you implement htslib in a language like Ruby, which is not widely used in bioinformatics?
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One of the greatest joys of using a minor language like Ruby in bioinformatics is that
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One of the greatest joys of using a minor language like Ruby in bioinformatics is that nothing stops 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 for beginners to create htslib bindings. Bioinformatics file formats, libraries, and tools are very complex, and I need to learn how to understand them. So I started 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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## Funding support
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This work was supported partially by [Ruby Association Grant 2020](https://www.ruby.or.jp/en/news/20201022).
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## License
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[MIT License](https://opensource.org/licenses/MIT).
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# frozen_string_literal: true
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# Q. Why is the file name auxi.rb and not aux.rb?
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#
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# A. This is for compatibility with Windows.
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# In Windows, aux is a reserved word
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# You cannot create a file named aux.
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module HTS
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class Bam < Hts
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# Auxiliary record data
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data/lib/hts/bam/header.rb
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# frozen_string_literal: true
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require_relative "header_record"
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module HTS
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class Bam < Hts
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# A class for working with alignment header.
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class Header
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def
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def self.parse(str)
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new(LibHTS.sam_hdr_parse(str.size, str))
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end
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def initialize(arg = nil)
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case arg
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when LibHTS::HtsFile
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@sam_hdr = LibHTS.sam_hdr_read(arg)
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when LibHTS::SamHdr
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@sam_hdr = arg
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when nil
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@sam_hdr = LibHTS.sam_hdr_init
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else
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raise TypeError, "Invalid argument"
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end
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end
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def struct
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end
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def target_count
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# FIXME: sam_hdr_nref
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@sam_hdr[:n_targets]
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end
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end
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end
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# experimental
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def add_lines(str)
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LibHTS.sam_hdr_add_lines(@sam_hdr, str, 0)
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end
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# experimental
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def add_line(type, *args)
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args = args.flat_map { |arg| [:string, arg] }
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LibHTS.sam_hdr_add_line(@sam_hdr, type, *args, :pointer, FFI::Pointer::NULL)
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end
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# experimental
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def find_line(type, key, value)
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ks = LibHTS::KString.new
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r = LibHTS.sam_hdr_find_line_id(@sam_hdr, type, key, value, ks)
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r == 0 ? ks[:s] : nil
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end
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# experimental
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def find_line_at(type, pos)
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ks = LibHTS::KString.new
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r = LibHTS.sam_hdr_find_line_pos(@sam_hdr, type, pos, ks)
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r == 0 ? ks[:s] : nil
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end
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# experimental
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def remove_line(type, key, value)
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LibHTS.sam_hdr_remove_line_id(@sam_hdr, type, key, value)
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end
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# experimental
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def remove_line_at(type, pos)
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LibHTS.sam_hdr_remove_line_pos(@sam_hdr, type, pos)
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end
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def to_s
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LibHTS.sam_hdr_str(@sam_hdr)
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end
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data/lib/hts/bam/record.rb
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require_relative "flag"
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require_relative "cigar"
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require_relative "
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require_relative "auxi"
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@header = header
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# Return the FFI::Struct object.
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def struct
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@bam1
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end
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@bam1.to_ptr
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end
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#
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# Get the read name. (a.k.a QNAME)
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# @return [String] query template name
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def qname
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LibHTS.bam_get_qname(@bam1).read_string
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end
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#
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#
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# raise 'Not Implemented'
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# end
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# returns the tid of the record or -1 if not mapped.
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# Get the chromosome ID of the alignment. -1 if not mapped.
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# @return [Integer] chromosome ID
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def tid
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@bam1[:core][:tid]
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end
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@bam1[:core][:tid] = tid
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end
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#
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# Get the chromosome ID of the mate. -1 if not mapped.
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# @return [Integer] chromosome ID
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def mtid
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@bam1[:core][:mtid]
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end
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@bam1[:core][:mtid] = mtid
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end
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#
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# Get the 0-based leftmost coordinate of the alignment.
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# @return [Integer] 0-based leftmost coordinate
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def pos
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@bam1[:core][:pos]
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end
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@bam1[:core][:pos] = pos
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end
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#
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# Get the 0-based leftmost coordinate of the mate.
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# @return [Integer] 0-based leftmost coordinate
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def mate_pos
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@bam1[:core][:mpos]
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end
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alias mpos mate_pos
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alias mpos= mate_pos=
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76
77
|
|
78
|
+
# Get the bin calculated by bam_reg2bin().
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79
|
+
# @return [Integer] bin
|
77
80
|
def bin
|
78
81
|
@bam1[:core][:bin]
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79
82
|
end
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@@ -82,12 +85,15 @@ module HTS
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|
82
85
|
@bam1[:core][:bin] = bin
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83
86
|
end
|
84
87
|
|
85
|
-
#
|
88
|
+
# Get the rightmost base position of the alignment on the reference genome.
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89
|
+
# @return [Integer] 0-based rightmost coordinate
|
86
90
|
def endpos
|
87
91
|
LibHTS.bam_endpos @bam1
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88
92
|
end
|
89
93
|
|
90
|
-
#
|
94
|
+
# Get the reference sequence name of the alignment. (a.k.a RNAME)
|
95
|
+
# '' if not mapped.
|
96
|
+
# @return [String] reference sequence name
|
91
97
|
def chrom
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92
98
|
return "" if tid == -1
|
93
99
|
|
@@ -96,7 +102,9 @@ module HTS
|
|
96
102
|
|
97
103
|
alias contig chrom
|
98
104
|
|
99
|
-
#
|
105
|
+
# Get the reference sequence name of the mate.
|
106
|
+
# '' if not mapped.
|
107
|
+
# @return [String] reference sequence name
|
100
108
|
def mate_chrom
|
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109
|
return "" if mtid == -1
|
102
110
|
|
@@ -105,12 +113,20 @@ module HTS
|
|
105
113
|
|
106
114
|
alias mate_contig mate_chrom
|
107
115
|
|
108
|
-
# Get strand
|
116
|
+
# Get whether the query is on the reverse strand.
|
117
|
+
# @return [String] strand "+" or "-"
|
109
118
|
def strand
|
110
119
|
LibHTS.bam_is_rev(@bam1) ? "-" : "+"
|
111
120
|
end
|
112
121
|
|
113
|
-
#
|
122
|
+
# Get whether the query's mate is on the reverse strand.
|
123
|
+
# @return [String] strand "+" or "-"
|
124
|
+
def mate_strand
|
125
|
+
LibHTS.bam_is_mrev(@bam1) ? "-" : "+"
|
126
|
+
end
|
127
|
+
|
128
|
+
# Get the observed template length. (a.k.a TLEN)
|
129
|
+
# @return [Integer] isize
|
114
130
|
def insert_size
|
115
131
|
@bam1[:core][:isize]
|
116
132
|
end
|
@@ -122,7 +138,8 @@ module HTS
|
|
122
138
|
alias isize insert_size
|
123
139
|
alias isize= insert_size=
|
124
140
|
|
125
|
-
# mapping quality
|
141
|
+
# Get the mapping quality of the alignment. (a.k.a MAPQ)
|
142
|
+
# @return [Integer] mapping quality
|
126
143
|
def mapq
|
127
144
|
@bam1[:core][:qual]
|
128
145
|
end
|
@@ -131,11 +148,14 @@ module HTS
|
|
131
148
|
@bam1[:core][:qual] = mapq
|
132
149
|
end
|
133
150
|
|
134
|
-
#
|
151
|
+
# Get the Bam::Cigar object.
|
152
|
+
# @return [Bam::Cigar] cigar
|
135
153
|
def cigar
|
136
154
|
Cigar.new(LibHTS.bam_get_cigar(@bam1), @bam1[:core][:n_cigar])
|
137
155
|
end
|
138
156
|
|
157
|
+
# Calculate query length from CIGAR.
|
158
|
+
# @return [Integer] query length
|
139
159
|
def qlen
|
140
160
|
LibHTS.bam_cigar2qlen(
|
141
161
|
@bam1[:core][:n_cigar],
|
@@ -143,6 +163,8 @@ module HTS
|
|
143
163
|
)
|
144
164
|
end
|
145
165
|
|
166
|
+
# Calculate reference length from CIGAR.
|
167
|
+
# @return [Integer] reference length
|
146
168
|
def rlen
|
147
169
|
LibHTS.bam_cigar2rlen(
|
148
170
|
@bam1[:core][:n_cigar],
|
@@ -150,7 +172,8 @@ module HTS
|
|
150
172
|
)
|
151
173
|
end
|
152
174
|
|
153
|
-
#
|
175
|
+
# Get the sequence. (a.k.a SEQ)
|
176
|
+
# @return [String] sequence
|
154
177
|
def seq
|
155
178
|
r = LibHTS.bam_get_seq(@bam1)
|
156
179
|
seq = String.new
|
@@ -161,11 +184,15 @@ module HTS
|
|
161
184
|
end
|
162
185
|
alias sequence seq
|
163
186
|
|
187
|
+
# Get the length of the query sequence.
|
188
|
+
# @return [Integer] query length
|
164
189
|
def len
|
165
190
|
@bam1[:core][:l_qseq]
|
166
191
|
end
|
167
192
|
|
168
|
-
#
|
193
|
+
# Get the base of the requested index "i" of the query sequence.
|
194
|
+
# @param [Integer] i index
|
195
|
+
# @return [String] base
|
169
196
|
def base(n)
|
170
197
|
n += @bam1[:core][:l_qseq] if n < 0
|
171
198
|
return "." if (n >= @bam1[:core][:l_qseq]) || (n < 0) # eg. base(-1000)
|
@@ -174,13 +201,23 @@ module HTS
|
|
174
201
|
SEQ_NT16_STR[LibHTS.bam_seqi(r, n)]
|
175
202
|
end
|
176
203
|
|
177
|
-
#
|
204
|
+
# Get the base qualities.
|
205
|
+
# @return [Array] base qualities
|
178
206
|
def qual
|
179
207
|
q_ptr = LibHTS.bam_get_qual(@bam1)
|
180
208
|
q_ptr.read_array_of_uint8(@bam1[:core][:l_qseq])
|
181
209
|
end
|
182
210
|
|
183
|
-
#
|
211
|
+
# Get the base qualities as a string. (a.k.a QUAL)
|
212
|
+
# ASCII of base quality + 33.
|
213
|
+
# @return [String] base qualities
|
214
|
+
def qual_string
|
215
|
+
qual.map { |q| (q + 33).chr }.join
|
216
|
+
end
|
217
|
+
|
218
|
+
# Get the base quality of the requested index "i" of the query sequence.
|
219
|
+
# @param [Integer] i index
|
220
|
+
# @return [Integer] base quality
|
184
221
|
def base_qual(n)
|
185
222
|
n += @bam1[:core][:l_qseq] if n < 0
|
186
223
|
return 0 if (n >= @bam1[:core][:l_qseq]) || (n < 0) # eg. base_qual(-1000)
|
@@ -189,7 +226,8 @@ module HTS
|
|
189
226
|
q_ptr.get_uint8(n)
|
190
227
|
end
|
191
228
|
|
192
|
-
#
|
229
|
+
# Get Bam::Flag object of the alignment.
|
230
|
+
# @return [Bam::Flag] flag
|
193
231
|
def flag
|
194
232
|
Flag.new(@bam1[:core][:flag])
|
195
233
|
end
|
@@ -205,7 +243,9 @@ module HTS
|
|
205
243
|
end
|
206
244
|
end
|
207
245
|
|
208
|
-
#
|
246
|
+
# Get the auxiliary data.
|
247
|
+
# @param [String] key tag name
|
248
|
+
# @return [String] value
|
209
249
|
def aux(key = nil)
|
210
250
|
aux = Aux.new(self)
|
211
251
|
if key
|
@@ -230,6 +270,7 @@ module HTS
|
|
230
270
|
end
|
231
271
|
end
|
232
272
|
|
273
|
+
# @return [String] a string representation of the alignment.
|
233
274
|
def to_s
|
234
275
|
kstr = LibHTS::KString.new
|
235
276
|
raise "Failed to format bam record" if LibHTS.sam_format1(@header.struct, @bam1, kstr) == -1
|