#sequencing — Monday, March 30, 2026 (2 items)
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SNP calling, haplotype phasing and allele-specific analysis with long RNA-seq reads.
(nature.com)
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Nature Methods 2026-03-30 | #transcriptomics #sequencing #variants #phasing | |
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The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation.
(link.springer.com)
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Genome Medicine 2026-03-30 | #bioinformatics #sequencing #diagnostics #precision medicine #rare disease |