鑒定全基因組變異(Variant Calling)軟件集錦

1.GATK

(1)program language:C++

(2)Reference:

 10.1101/gr.107524.110(Genome Research,2010)
 10.1038/ng.806(Nature Genetics,2011)
 10.1002/0471250953.bi1110s43(Current protocols in human genetics,2013)
 10.1101/201178(bioRxiv,2017)

(3)Manual:

  https://github.com/broadinstitute/gatk
  10.1038/ng.806(Nature Genetics,2011)
  10.1002/0471250953.bi1110s43(Current protocols in human genetics,2013)

(4)Link:

   https://github.com/broadinstitute/gatk/releases

2.DeepVariant

(1)program language:C++,Python

(2)Reference:

   10.1038/nbt.42352(Nature Biotechnology ,2018)
   10.1101/2020.02.10.942086(bioRxiv,2020)

(3)Manual:

    https://github.com/google/deepvariant/tree/r0.10/docs

(4)Link:

    https://github.com/google/deepvariant

3.Sentieon(商業(yè)版GATK)

    https://www.sentieon.com

4.SAMtools

(1)program language:C

(2)Reference:

   10.1093/bioinformatics/btp352(Bioinformatics,2009)
   10.1101/gr.114819.110(Genome Research,2011)
   10.1101/020024(bioRxiv ,2015)

(3)Manual:

   http://www.htslib.org/doc/

(4)Link:

   https://github.com/samtools/samtools
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