Denovo variants
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9 months ago

Hi Guys,

Can anyone let me know the protocol/steps to identify Denovo variants from input files as father.gvcf, mother.gvcf & proband.gvcf (trio) ? I am aware about possibledenovo function in GATK but that requires a pedigree (.ped) file. So, I wondering how to generate a .ped file from gvcf I have. Any help is appreciated.

Thanks in Advance

denovo gvcf trio • 479 views
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As @pierre already said ped file or pedigree file is a text file which must contain 6 mandatory columns such as Family ID, Individual ID, Paternal ID, Maternal ID, Sex (1=male; 2=female), Phenotype (1 unaffected, 2 affected)

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Entering edit mode
9 months ago

You don t generate any pedigree with gatk. The pedigree is just a text file describing the families. You can just create it with any text editor

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