ArticleHereditas2021
Performance comparison of four types of target enrichment baits for exome DNA sequencing.
Article in Hereditas, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 38 citations in OpenAlex.
- Article
- Direct whole-genome sequencing of Coxiella burnetii from environmental samples using a two-step selective enrichment approach.PLoS neglected tropical diseases · 2026Article
- A Roadmap for Using Hybridisation Capture-Based Target Enrichment of Ancient Environmental DNA in Palaeoecology.Molecular ecology resources · 2026Review
- Article
- Performance comparison of four exome capture platforms on DNBSEQ-Series high throughput sequencer.BMC genomics · 2025Article
- A systematic analysis of contemporary whole exome sequencing capture kits to optimise high-coverage capture of CCDS regions.NAR genomics and bioinformatics · 2025Article
- Comparative evaluation of DNA and RNA probes for capture-based mitochondrial DNA next-generation sequencing.BMC biology · 2025Article
- GENOMICON-Seq enables realistic simulation of amplicon and exome sequencing for low-frequency mutation detection.Scientific reports · 2025Article
- Analytical validation of Aspyre Clinical Test for Lung (Blood): A multiplexed PCR and pyrophosphorolysis-based assay for detecting actionable NSCLC variants in plasma cfDNA and cfRNA.The journal of liquid biopsy · 2025Article
- Comparative evaluation of four exome enrichment solutions in 2024: Agilent, Roche, Vazyme and Nanodigmbio.BMC genomics · 2025Article
- An advanced 10K SNP panel for genotyping tomato (Frontiers in plant science · 2025Article
- Optimizing sequence data analysis using convolution neural network for the prediction of CNV bait positions.BMC bioinformatics · 2024Article
- Enhancing Clinical Applications by Evaluation of Sensitivity and Specificity in Whole Exome Sequencing.International journal of molecular sciences · 2024Article
- High-fidelity, large-scale targeted profiling of microsatellites.Genome research · 2024Article
- Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges.Briefings in bioinformatics · 2024Review
- Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus.Frontiers in genetics · 2024Review
- Assessment and validation of enrichment and target capture approaches to improveJournal of clinical microbiology · 2023Article
- Correction to: Performance comparison of four types of target enrichment baits for exome DNA sequencing.Hereditas · 2023Article
- A method to generate capture baits for targeted sequencing.Nucleic acids research · 2023Article
- Article
Corrections and comments
- Erratum issued
Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
backgroundNext-generation sequencing technology is developing rapidly and target capture sequencing has become an important technique. Several different platforms for library preparation and target capture with different bait types respectively are commercially available. Here we compare the performance of the four platforms with different bait types to find out their advantages and limitations. The purpose of this study is to help investigators and clinicians select the appropriate platform for their particular application and lay the foundation for the development of a better target capture platform for next-generation sequencing.
resultsWe formulate capture efficiency as a novel parameter that can be used to better evaluations of specificity and coverage depth among the different capture platforms. Target coverage, capture efficiency, GC bias, AT Dropout, sensitivity in single nucleotide polymorphisms, small insertions and deletions detection, and the feature of each platform were compared for low input samples. In general, all platforms perform well and small differences among them are revealed. In our results, RNA baits have stronger binding power than DNA baits, and with ultra deep sequencing, double stranded RNA baits perform better than single stranded RNA baits in all aspects. DNA baits got better performance in the region with high GC content and RNA baits got lower AT dropout suggesting that the binding power is different between DNA and RNA baits to genome regions with different characteristics.
conclusionsThe platforms with double stranded RNA baits have the most balanced capture performance. Our results show the key differences in performance among the four updated platforms with four different bait types. The better performance of double stranded RNA bait with ultra deep sequencing suggests that it may improve the sensitivity of ultra low frequent mutation detection. In addition, we further propose that the mixed baits of double stranded RNA and single stranded DNA may improve target capture performance.
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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.