Genome Analysis Toolkit

Variant Discovery in High-Throughput Sequencing Data

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Developed in the Data Sciences Platform at the Broad Institute, the toolkit offers a wide variety of tools with a primary focus on variant discovery and genotyping. Its powerful processing engine and high-performance computing features make it capable of taking on projects of any size. Learn more

SNP CALLING underlined high level or heterzygosity in surely highly homozygous samples

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    Gökalp Çelik

    Hi Fabrizio Olivieri

    I believe the second call step is totally unnecessary since that removes all the remaining reference confidence sites for your cause. 

    Instead of recalling (which we also think is problematic. We do not recommend using GVCF files as allele inputs for HaplotypeCaller since that file is still raw and not genotyped), we recommend combining the first 2 GVCF files and joint genotyping that file. The resulting genotype file will contain HOMREF, HOMVAR and HET loci for all common loci that those 2 samples can convene. 

    I hope this helps. 

    Regards. 

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    Navin Shrestha

    Hi Fabrizio Olivieri,

    I am here to seek your suggestion rather than solving your issue. I am also trying to run GATK for 'tomato'. I am performing Bulked Segregant Analysis in tomato. I am stuck at the 'BQSR (Base Quality Score Recalibration)' step because I cannot not find 'known sites' for tomato. Could you please suggest where I can find this information or datasets to access and/or download?

    Thank you,
    Navin Shrestha

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