ArticleGenomics & informatics2015
Effect of Next-Generation Exome Sequencing Depth for Discovery of Diagnostic Variants.
Article in Genomics & informatics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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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
9 citing papers in PubMed, 17 citations in OpenAlex.
- GATES: A Lightweight Tool Automating Pathogenic Variant Discovery From Raw Whole-Exome Sequencing Data.Cancer informatics · 2026Article
- Article
- Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing.BMC bioinformatics · 2021Article
- The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.Genomics, proteomics & bioinformatics · 2020Article
- Genetic Variants Contributing to Early Recurrent Pregnancy Loss Etiology Identified by Sequencing Approaches.Reproductive sciences (Thousand Oaks, Calif.) · 2020Review
- Emerging Role of Genomics and Cell-Free DNA in Breast Cancer.Current treatment options in oncology · 2019Review
- Applications and analysis of targeted genomic sequencing in cancer studies.Computational and structural biotechnology journal · 2019Review
- Novel applications of next-generation sequencing in breast cancer research.Genes & diseases · 2017Review
- Amplicon-based semiconductor sequencing of human exomes: performance evaluation and optimization strategies.Human genetics · 2016Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sequencing depth, which is directly related to the cost and time required for the generation, processing, and maintenance of next-generation sequencing data, is an important factor in the practical utilization of such data in clinical fields. Unfortunately, identifying an exome sequencing depth adequate for clinical use is a challenge that has not been addressed extensively. Here, we investigate the effect of exome sequencing depth on the discovery of sequence variants for clinical use. Toward this, we sequenced ten germ-line blood samples from breast cancer patients on the Illumina platform GAII(x) at a high depth of ~200×. We observed that most function-related diverse variants in the human exonic regions could be detected at a sequencing depth of 120×. Furthermore, investigation using a diagnostic gene set showed that the number of clinical variants identified using exome sequencing reached a plateau at an average sequencing depth of about 120×. Moreover, the phenomena were consistent across the breast cancer samples.
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Registered trials
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