ArticleScientific reports2015
Performance comparison of four commercial human whole-exome capture platforms.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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Who cites it
45 citing papers in PubMed, 101 citations in OpenAlex.
- A Practical Workflow for Correcting Kit-Specific Effects in Whole-Exome Sequencing Data.Methods and protocols · 2026Article
- 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
- Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypes.American journal of medical genetics. Part A · 2024Article
- Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network.European journal of human genetics : EJHG · 2024Article
- A de novo missense mutation in MPP2 confers an increased risk of Vogt-Koyanagi-Harada disease as shown by trio-based whole-exome sequencing.Cellular & molecular immunology · 2023Article
- Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.Human genomics · 2023Article
- Performance comparison of Agilent new SureSelect All Exon v8 probes with v7 probes for exome sequencing.BMC genomics · 2022Article
- Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic IntronicGenes · 2022Article
- Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes.Orphanet journal of rare diseases · 2022Article
- ECNano: A cost-effective workflow for target enrichment sequencing and accurate variant calling on 4800 clinically significant genes using a single MinION flowcell.BMC medical genomics · 2022Article
- System analysis of the sequencing quality of human whole exome samples on BGI NGS platform.Scientific reports · 2022Article
- A verified genomic reference sample for assessing performance of cancer panels detecting small variants of low allele frequency.Genome biology · 2021Article
- Performance comparison of four types of target enrichment baits for exome DNA sequencing.Hereditas · 2021Article
- AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data.Nature communications · 2021Article
- Evaluation of Whole-Exome Enrichment Solutions: Lessons from the High-End of the Short-Read Sequencing Scale.Journal of clinical medicine · 2020Article
- Best practices for variant calling in clinical sequencing.Genome medicine · 2020Review
- Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.Molecular genetics & genomic medicine · 2020Article
- Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance.Journal of clinical immunology · 2020Article
- Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans.PLoS genetics · 2020Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Whole exome sequencing (WXS) is widely used to identify causative genetic mutations of diseases. However, not only have several commercial human exome capture platforms been developed, but substantial updates have been released in the past few years. We report a performance comparison for the latest release of four commercial platforms, Roche/NimbleGen's SeqCap EZ Human Exome Library v3.0, Illumina's Nextera Rapid Capture Exome (v1.2), Agilent's SureSelect XT Human All Exon v5 and Agilent's SureSelect QXT, using the same DNA samples. Agilent XT showed the highest target enrichment efficiency and the best SNV and short indel detection sensitivity in coding regions with the least amount of sequencing. Agilent QXT had slightly inferior target enrichment than Agilent XT. Illumina, with additional sequencing, detected SNVs and short indels at the same quality as Agilent XT, and showed the best performance in coverage of medically interesting mutations. NimbleGen detected more SNVs and indels in untranslated regions than the others. We also found that the platforms, which enzymatically fragment the genomic DNA (gDNA), detected more homozygous SNVs than those using sonicated gDNA. We believe that our analysis will help investigators when selecting a suitable exome capture platform for their particular research.
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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.