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

DetermineGermlineContigPloidy generating error

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    Qianru Lenus SUN

    Gökalp Çelik may I bother for your help? thanks! here is my contig.tsv

     

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    Gökalp Çelik

    Hi Qianru Lenus SUN

    We recommend working with main reference contigs only for GCNV workflow. If your read collections contain other unlocalized or alt contigs inside you need to remove them or recollect read counts with only intervals in the main reference contigs. We also recommend running GCNV against chrM with autosomes as chrM may have elevated depths and quite short length for a possible HMM traversal. 

    I hope this helps. 

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