ArticleBMC bioinformatics2025
Accurate human genome analysis with element avidity sequencing.
Article in BMC bioinformatics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
18 citing papers in PubMed.
- Benchmarking Q40 sequencing for sensitive and efficient detection of rare genomic variants.Genome biology · 2026Article
- Whole-genome sequencing with AVITI and NovaSeq X Plus reveals comparable performance with contextual biases.NAR genomics and bioinformatics · 2026Article
- AVITI sequencing of a four-generation CEPH/Utah pedigree confirms low mutation rates at homopolymer loci despite their low sequence complexity.Genome biology · 2026Article
- Colibactin-associated mutations in the human colon appear to reflect anatomy and early exposure, not oncogenesis.medRxiv : the preprint server for health sciences · 2026Article
- Next generation sequencing and beyond: a review of genomic sequencing methods.Functional & integrative genomics · 2025Article
- AVITI sequencing of a four-generation CEPH/Utah pedigree confirms low mutation rates at homopolymer loci despite their low sequence complexity.bioRxiv : the preprint server for biology · 2025Article
- A simplified hybrid capture approach retains high specificity and enables PCR-free workflow.BMC genomics · 2025Article
- Highly accurate assembly polishing with DeepPolisher.Genome research · 2025Article
- Pangenome-aware DeepVariant.bioRxiv : the preprint server for biology · 2025Article
- Flexible, production-scale, human whole genome sequencing on a benchtop sequencer.BMC genomics · 2025Article
- Implementation of Multi-Criteria Decision-Making for Selecting Most Effective Genome Sequencing Technology.Diagnostics (Basel, Switzerland) · 2025Article
- Improved characterization of 3' single-cell RNA-seq libraries with paired-end avidity sequencing.NAR genomics and bioinformatics · 2024Article
- Personalized pangenome references.Nature methods · 2024Article
- Highly accurate assembly polishing with DeepPolisher.bioRxiv : the preprint server for biology · 2024Article
- Utility analyses of AVITI sequencing chemistry.BMC genomics · 2024Article
- Improved characterization of single-cell RNA-seq libraries with paired-end avidity sequencing.bioRxiv : the preprint server for biology · 2024Article
- Utility Analyses of AVITI Sequencing Chemistry.bioRxiv : the preprint server for biology · 2024Article
- Personalized Pangenome References.bioRxiv : the preprint server for biology · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNew sequencing technologies provide options for the scientific community to design studies and build clinical workflows. These options expand user choice, and can enable more accurate, scalable, or affordable workflows depending on the fit between scientist needs and platform capability. However, it is essential to understand the performance of these new technologies for different tasks, especially for capabilities that were not possible or tractable in prior technologies. We investigate the new sequencing technology avidity from Element Biosciences. to help the scientific community understand the performance of the options to generate sequencing data.
resultsWe show that Element whole genome sequencing achieves higher mapping and variant calling accuracy compared to Illumina sequencing at the same coverage, with larger differences at lower coverages (20-30x). We quantify base error rates of Element reads, finding lower error rates, especially in homopolymer and tandem repeat regions. We use Element's ability to generate paired end sequencing with longer insert sizes than typical short-read sequencing. We show that longer insert sizes result in even higher accuracy, with long insert Element sequencing giving more accurate genome analyses at all coverages.
conclusionsNew options for sequencing technologies can analyze genomes comparably or better than prior standard methods.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.