I am working on amplicon data from an aploid genome (same length, already aligned with a miltiple alignment). Since I cannot generate a .bam file I've to call mutations from aligned fastq through base count generation. To validate a mutation I've to calculate genotype likelihood, but I cannot find a simplified version of the formula, despite I found a 'simpler' formula that expoites counter for GL calculation (https://gwct.github.io/referee/calcs.html). Moreover, all these formulae are not well explained in the page, so I am wondering if someone has already tryed to calculate GL by hand ( having base counts, base qualities and mapping qualities). If possible, I would like to calculate GL in a 'samtools like' manner which is more conservative respect GATK and other tools
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by SEQadmin2
Tumors contain complex mixtures of cell populations that evolve in response to treatment and host-specific factors. Tissue biopsies provide only static snapshots of a tumor’s state. But what if we could follow that evolution over time using a minimally invasive technique?
Liquid biopsies can detect tumor-derived material circulating in the bloodstream, providing a way to study treatment response, detect emerging resistance, and discover new biomarkers. Circulating...-
Channel: Articles
10-14-2026, 09:55 AM -
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