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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Molecular NeurodegenerationMarch 2025
A versatile mouse model to advance human microglia transplantation research in neurodegenerative diseases
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International Journal of Molecular SciencesMarch 2025
CD133+CD24+ Renal Tubular Progenitor Cells Drive Hypoxic Injury Recovery via Hypoxia-Inducible Factor-1A and Epidermal Growth Factor Receptor Expression
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Nature CommunicationsMarch 2025
Enhanced RNA-targeting CRISPR-Cas technology in zebrafish
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Journal of Experimental MedicineMarch 2025
Dominant interfering CARD11 variants disrupt JNK signaling to promote GATA3 expression in T cells
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Research SquareMarch 2025
Plate-based long-read single cell gene- and isoform transcriptome profiling using scLIS-seq
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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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76 - 100 of 200 publications