I'd like to supplement variant calls in WGS with RNA-Seq data. Essentially, I would like to use the additional information in RNA-Seq to provide a "tie-breaker" of sorts for SNVs which are on the border of being significant within WGS. If I have a position which is almost a SNV at the genomic level (say 20 reference and 4 variant reads), and I see the same variant reads at the RNA level, I am inclined to believe it is a SNV as opposed to some random sequencing error. Is anyone aware of a tool which can incorporate RNA-Seq like this?
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by SEQadmin2
NGS has revolutionized clinical microbiology by offering new ways to identify and surveil pathogens without prior knowledge of the target. One popular approach is 16S rRNA and ITS amplicon sequencing, which targets specific microbial markers. But studies are increasingly incorporating shotgun metagenomics, a technique that sequences all DNA from a sample without targeting specific microbial markers. This approach allows more detailed taxonomic classification, detection...-
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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...-
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10-14-2026, 09:55 AM -
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10-22-2026, 10:48 AM
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