We have done genotyping from targeted DNA sequencing of 600 related human samples. The targeted regions are mainly the exons of several hundred imprinted genes and the total size of the panel is 4Mb. About 200 samples were in trios and we were able to phase their variants. We are wondering if we could use these genotyping and phasing data to impute the SNPs beyond the targeted regions, e.g. several Kb or Mb upstream/downstream of the genes we targeted in the panel. All the sequenced samples came from a small local population so it's expected that they share many common haplotypes. Will this help imputation? If it's feasible, which pipeline/tools should be used? Thanks.
-
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...10-30-2026, 06:46 AM -
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