ArticleScientific reports2017
Novel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
43 citing papers in PubMed.
- Comparison of Whole Exome Sequencing Commercial Kits Performance Across Diverse Tissue Sources.International journal of molecular sciences · 2026Article
- Toward the establishment of best practice guidelines for human research in Genomic Medicine in Brazil.Genetics and molecular biology · 2026Article
- Placental Malperfusion Is Associated With Adverse Outcomes in Congenital Heart Disease and With Genetic Variants in Placental Developmental Pathways.Journal of the American College of Cardiology · 2025Article
- Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia.Orphanet journal of rare diseases · 2025Article
- Methods, applications, and computational challenges in bait capture enrichment.Cell reports methods · 2025Review
- Optimization of DNA Fragmentation Techniques to Maximize Coverage Uniformity of Clinically Relevant Genes Using Whole Genome Sequencing.Diagnostics (Basel, Switzerland) · 2025Article
- A systematic analysis of contemporary whole exome sequencing capture kits to optimise high-coverage capture of CCDS regions.NAR genomics and bioinformatics · 2025Article
- Efficient and effective identification of cancer neoantigens from tumor only RNA-seq.NAR genomics and bioinformatics · 2025Article
- Comparison of next‑generation sequencing quality metrics and concordance in the detection of cancer‑specific molecular alterations between formalin‑fixed paraffin‑embedded and fresh‑frozen samples in comprehensive genomic profiling with the Illumina® TruSight Oncology 500 assay.Experimental and therapeutic medicine · 2025Article
- Comparative evaluation of four exome enrichment solutions in 2024: Agilent, Roche, Vazyme and Nanodigmbio.BMC genomics · 2025Article
- Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases.Orphanet journal of rare diseases · 2024Article
- Review
- Mapinsights: deep exploration of quality issues and error profiles in high-throughput sequence data.Nucleic acids research · 2023Article
- Human Exome Sequencing and Prospects for Predictive Medicine: Analysis of International Data and Own Experience.Journal of personalized medicine · 2023Review
- Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform.Human genome variation · 2023Article
- Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.Human genomics · 2023Article
- Application of single-cell sequencing to the research of tumor microenvironment.Frontiers in immunology · 2023Review
- Article
- Performance comparison of Agilent new SureSelect All Exon v8 probes with v7 probes for exome sequencing.BMC genomics · 2022Article
- A rare genetic variant in the cleavage site of prepro-orexin is associated with idiopathic hypersomnia.NPJ genomic medicine · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
Abstract
Whole Exome Sequencing (WES) is a powerful clinical diagnostic tool for discovering the genetic basis of many diseases. A major shortcoming of WES is uneven coverage of sequence reads over the exome targets contributing to many low coverage regions, which hinders accurate variant calling. In this study, we devised two novel metrics, Cohort Coverage Sparseness (CCS) and Unevenness (U
Indexed as
Identifiers
What OpenQuestion holds
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.