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Khabre desk
Recent reporting, analysis and explainers from the long-read sequencing desk.
science
A bioRxiv preprint describes LongVerse, a system that uses AI agents to configure a fixed pipeline for haplotype-resolved DNA methylation analysis from Nanopore or PacBio reads. In tests on the HG002 reference genome, the authors report calls identical to a human expert’s and comparisons with bisulfite sequencing.
science
A bioRxiv preprint presents LongPhase-TO, a long-read method for reconstructing somatic haplotypes from tumour samples without matched normal DNA. In tests on eight datasets from six cancer cell lines, the method lengthened haplotype blocks and improved somatic variant-calling scores.
science
A bioRxiv preprint describes Isocall, a deterministic method for jointly identifying known and novel transcripts across large PacBio long-read RNA-sequencing datasets. The authors report a joint call across 206 samples in 25 minutes after alignment and profiling.