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.
View Publication
Showing 101 - 125 of 200 results:
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
View Publication
Natture MethodsFebruary 2025
Scalable co-sequencing of RNA and DNA from individual nuclei
View Publication
Communications BiologyJanuary 2025
Functional genomics implicates ebony in the black pupae phenotype of tephritid fruit flies
View Publication
Nature GeneticsJanuary 2025
Transcript-specific enrichment enables profiling of rare cell states via single-cell RNA sequencing
View Publication
101 - 125 of 200 publications