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Peer-reviewed and preprint publications demonstrating the real-world applications of our technology.

Nature BiotechnologyApril 2025David Porubsky, et al. 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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International Journal of Molecular SciencesNovember 2024Eloho Ighofose, et al. Effect of Long-Term Cisplatin Exposure on the Proliferative Potential of Immortalized Renal Progenitor Cells
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Nature CommunicationsNovember 2024Liselot Dewachter, et al. The role of the essential GTPase ObgE in regulating lipopolysaccharide synthesis in Escherichia coli
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BioRxivOctober 2024Yuya Kiguchi, et al. Giant extrachromosomal element “Inocle” potentially expands the adaptive capacity of the human oral microbiome
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BioRxivOctober 2024Verena Haage, et al. HDAC Inhibitors recapitulate Human Disease-Associated Microglia Signatures in vitro
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Scientific dataOctober 2024Jennifer H. McDaniel, et al. Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair
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PLOS OneOctober 2024Pooja Biswas, et al. Avidity sequencing of whole genomes from retinal degeneration pedigrees identifies causal variants
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ACS NanoOctober 2024Kewa Gao, et al. Widespread Gene Editing in the Brain via In Utero Delivery of mRNA Using Acid-Degradable Lipid Nanoparticles
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Acta NeurologicaOctober 2024Celeste Laureyssen, et al. Hypothesis-based investigation of known AD risk variants reveals the genetic underpinnings of neuropathological lesions observed in Alzheimer’s-type dementia
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Cell ReportsOctober 2024Pavel Tsaytler, et al. SRF promotes long-range chromatin loop formation and stem cell pluripotency
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Journal of Biological ChemistryOctober 2024Julia A. Jones, et al. Murine Nuclear Tyrosyl-tRNA Synthetase Deficiency Leads to Fat Storage Deficiency and Hearing Loss
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Molecular TherapyOctober 2024Devin J Jones, et al. Effective knockdown - replace gene therapy in a novel mouse model of DNM1 developmental and epileptic encephalopathy
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Current BiologySeptember 2024Panxin Du, et al. Genomic dynamics of the Lower Yellow River Valley since the Early Neolithic
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BioRxivSeptember 2024Rema Iyer, et al. SUMO2 Inhibition Reverses Aberrant Epigenetic Rewiring Driven by Synovial Sarcoma Fusion Oncoproteins and Impairs Sarcomagenesis
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BioRxivSeptember 2024Mira Mastoras, et al. Highly accurate assembly polishing with DeepPolisher
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Nature MethodsSeptember 2024Jouni Siren, et al. Personalized Pangenome References
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Nature CommunicationsSeptember 2024Braden T. Tierney, et al. Towards geospatially-resolved public-health surveillance via wastewater sequencing
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Nature GeneticsSeptember 2024Junjie Zhu, et al. Custom microfluidic chip design enables cost-effective three-dimensional spatiotemporal transcriptomics with a wide field of view
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Cell ReportsSeptember 2024Christine Germeys, et al. Targeting EGLN2/PHD1 protects motor neurons and normalizes the astrocytic interferon response
AVITI
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BMC GenomicsAugust 2024Silvia Liu, et al. Utility Analyses of AVITI Sequencing Chemistry
AVITI LoopSeq
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MedRxivAugust 2024Armin Ahmadi, et al. Randomized Crossover Clinical Trial of Nicotinamide Riboside and Coenzyme Q10 on Metabolic Health and Mitochondrial Bioenergetics in CKD
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BioRxivAugust 2024Aaron P. Havas, et al. Activated Interferon Signaling Suppresses Age-Dependent Liver Cancer
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BioinformaticsAugust 2024Aarushi Sehgal, et al. Genome-wide detection of somatic mosaicism at short tandem repeats
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Science ImmunologyAugust 2024Leandro P Araujo, et al. Context-dependent role of group 3 innate lymphoidcells in mucosal protection
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Human Molecular GeneticsJuly 2024Orangel J Gutierrez Fugon, et al. Integration of CTCF Loops, Methylome, and Transcriptome in Differentiating LUHMES as a Model for Imprinting Dynamics of the 15q11-q13 Locus in Human Neurons
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BioRxivJuly 2024Erica M. Periandri, et al. Acetate enhances spatial memory in females via sex- and brain region-specific epigenetic and transcriptional remodeling
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