Publications Hub
Peer-reviewed and preprint publications demonstrating the real-world applications of our technology.
Nature BiotechnologyApril 2025
Human de novo mutation rates from a four-generation pedigree reference
Using advanced sequencing technologies, the authors assembled near-complete genomes across four generations of the CEPH 1463 pedigree to investigate human de novo mutation (DNM) rates. AVITI sequencing provided high-accuracy data in homopolymer regions that improved validation of tandem repeat mutations and helped reduce artifacts in variant calling. Read our blog to learn more.
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Genome ResearchMay 2025
Charting the regulatory landscape of TP53 on transposable elements in cancer
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26 - 50 of 200 publications