Can Platypus detect variants with low allele fractions?
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Jacquelyn Reuther
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Jun 8, 2017, 12:48:51 PM6/8/17
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Hi,
We recently sequenced a cell line with a known BRAF V600E mutation with a variant allele fraction of approximately 6%. Shown below is the BAM file used (generated by BWA) as input for platypus variant calling. This variant is clearly represented in the BAM files at a VAF of 7% but the variant was not called by Platypus. Is platypus able to call variants of low allelic fractions? For reference, this data was generated from a sample undergoing hybridization captureand a was aligned by BWA with duplicate reads are marked by Platypus (reads shown in IGV screenshot are indicative of the true deduplicated read count). Thanks for your help!