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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Showing 1 - 25 of 256 results:
Cell Chemical BiologyJuly 2025
Ribosomal RNA transcription regulates splicing through ribosomal protein RPL22
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Circulation ResearchJuly 2025
Ferroptosis-Mediated Inflammation Promotes Pulmonary Hypertension
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Clinical Journal of the American Society of NephrologyJuly 2025
A Pilot Trial of Nicotinamide Riboside and Coenzyme Q10 on Inflammation and Oxidative Stress in CKD
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Nature MicrobiologyJuly 2025
Intraspecies warfare restricts strain coexistence in human skin microbiomes
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1 - 25 of 256 publications