We are sequencing a gene (SERPINA2, NM_006220.2), which is present only as a psuedogene in hg19 reference. Bases for two and a half of the four exons are actually present in the reference and will align, but the remaining bases are completely deleted (this is a normal polymorphism). This gene is being sequenced as part of a panel, and we'd like to preserve the reference coordinates. Does anyone have any recommendations on how to modify the reference or approach the alignment?
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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...10-14-2026, 09:55 AM -
Researchers using sequencing and genomics tools often have to make trade-offs. They can choose between speed or scale, short reads or long-range information, or targeted panels or a view of the whole transcriptome. New technologies that have been released this year are built to address those tough choices.
We asked six companies the same four questions to learn about their latest products. The new technologies bring a lot to the table, including rethinking sequencing...