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.
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Nature CommunicationsMarch 2025
Expression of ENL YEATS domain tumor mutations in nephrogenic or stromal lineage impairs kidney development
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BioRxivFebruary 2025
Differences in cell-associated and cell-free microbial DNA in blood
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Nucleic Acid ResearchFebruary 2025
Sequence determinants of intron-mediated enhancement learned from thousands of random introns
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The Journal of Applied Laboratory MedicineFebruary 2025
Comparison of Sequencing-by-Synthesis and Avidity Base Chemistry Next-Generation Sequencing Platforms in Identifying Somatic Variants of Hematological Malignancies
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Natture MethodsFebruary 2025
Scalable co-sequencing of RNA and DNA from individual nuclei
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176 - 200 of 290 publications