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 201 - 225 of 290 results:
Medical MycologyJanuary 2025
Brown locusts, Locustana pardalina, hosts fluconazole resistant Candidozyma (Candida) auris (Clade III)
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Communications BiologyJanuary 2025
Functional genomics implicates ebony in the black pupae phenotype of tephritid fruit flies
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Nature GeneticsJanuary 2025
Transcript-specific enrichment enables profiling of rare cell states via single-cell RNA sequencing
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Research SquareDecember 2024
Mitochondrial metabolism and epigenetic crosstalk drive the SASP
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Nucleic Acid ResearchDecember 2024
Identification and characterization of a human MORC2 DNA binding region that is required for gene silencing
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Molecular Biology and EvolutionDecember 2024
Navigating a fine balance: point-mutant cheater viruses disrupt the viral replication cycle
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Water ResearchDecember 2024
Assessing different next-generation sequencing technologies for wastewater-based epidemiology
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NAR Genomics & BioinformaticsDecember 2024
Improved characterization of 3′ single-cell RNA-seq libraries with paired-end avidity sequencing
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Nature BiotechnologyDecember 2024
Targeting peptide antigens using a multiallelic MHC I-binding system
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Science AdvancesNovember 2024
A dual role for PSIP1/LEDGF in T cell acute lymphoblastic leukemia
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201 - 225 of 290 publications