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Peer-reviewed and preprint publications demonstrating the real-world applications of our technology.
Nature Biotechnology
April 2025
David Porubsky, et al.
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.
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