peer-reviewed publication
Illumina's Dragen Outperforms Broad GATK, Google DeepVariant in Variant Analysis Benchmarking Study
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Illumina's latest Dragen pipeline brings pangenome-based variant analysis to the masses, though the change will be invisible to most users.
The study from Zurich-based researchers, published in Genome Biology, highlighted the utility of different tools for different datasets.
Clinicians have put together a software program that scans databases for new information and applies it to thousands of patient genomes on a monthly basis.
Long-Read Sequencing Sheds Light on Potential Links Between RNA Isoforms, Alzheimer's Disease
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Using nanopore sequencing, University of Kentucky researchers were able to study and quantify the diverse RNA isoforms in aged human frontal cortex samples.
Wellcome Sanger Benchmarking Study Highlights Suitable Enzymes for NGS Library Amplification
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The researchers evaluated over 20 high-fidelity polymerases for short-read and long-read applications, offering insights into their performances and pitfalls.