ReviewFrontiers in genetics2013
The role and challenges of exome sequencing in studies of human diseases.
Review in Frontiers in genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 2 of them syntheses that pooled it.
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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
56 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Challenges targeting cancer neoantigens in 2021: a systematic literature review.Expert review of vaccines · 2021Pooled it
- Identification of IDUA and WNT16 Phosphorylation-Related Non-Synonymous Polymorphisms for Bone Mineral Density in Meta-Analyses of Genome-Wide Association Studies.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2016Pooled it
- A universal indel filtering workflow for both long-read and short-read NGS data.BMC research notes · 2026Article
- Implications for the role of natural products in Parkinson disease therapy.Archives of medical science : AMS · 2025Article
- Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.Frontiers in genetics · 2025Article
- Tumor Neoepitope-Based Vaccines: A Scoping Review on Current Predictive Computational Strategies.Vaccines · 2024Article
- Closing the gap: Solving complex medically relevant genes at scale.medRxiv : the preprint server for health sciences · 2024Article
- Acquired resistance to KRAS G12C small-molecule inhibitors via genetic/nongenetic mechanisms in lung cancer.Science advances · 2023Article
- Whole exome sequencing identifies novel inherited genetic variants in tetralogy of Fallot.Journal of thoracic disease · 2022Article
- Genome-wide identification of exon extension/shrinkage events induced by splice-site-creating mutations.RNA biology · 2022Article
- Clinics and genetic background of hereditary gingival fibromatosis.Orphanet journal of rare diseases · 2021Review
- The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders.Molecular diagnosis & therapy · 2020Review
- A comparison of BeadChip and WGS genotyping outputs using partial validation by sanger sequencing.BMC genomics · 2020Article
- Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.Frontiers in genetics · 2020Review
- Genome sequencing and implications for rare disorders.Orphanet journal of rare diseases · 2019Review
- DissectingFrontiers in genetics · 2019Article
- Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth.PLoS genetics · 2018Article
- Effective discovery of rare variants by pooled target capture sequencing: A comparative analysis with individually indexed target capture sequencing.Mutation research · 2018Article
- Whole-exome sequencing and gene-based rare variant association tests suggest that PLA2G4E might be a risk gene for panic disorder.Translational psychiatry · 2018Article
- A Key Role for the Genetic Counsellor in the Genomics Era.F1000Research · 2018Article
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
Recent advances in next-generation sequencing technologies have transformed the genetics study of human diseases; this is an era of unprecedented productivity. Exome sequencing, the targeted sequencing of the protein-coding portion of the human genome, has been shown to be a powerful and cost-effective method for detection of disease variants underlying Mendelian disorders. Increasing effort has been made in the interest of the identification of rare variants associated with complex traits in sequencing studies. Here we provided an overview of the application fields for exome sequencing in human diseases. We describe a general framework of computation and bioinformatics for handling sequencing data. We then demonstrate data quality and agreement between exome sequencing and exome microarray (chip) genotypes using data collected on the same set of subjects in a genetic study of panic disorder. Our results show that, in sequencing data, the data quality was generally higher for variants within the exonic target regions, compared to that outside the target regions, due to the target enrichment. We also compared genotype concordance for variant calls obtained by exome sequencing vs. exome genotyping microarrays. The overall consistency rate was >99.83% and the heterozygous consistency rate was >97.55%. The two platforms share a large amount of agreement over low frequency variants in the exonic regions, while exome sequencing provides much more information on variants not included on exome genotyping microarrays. The results demonstrate that exome sequencing data are of high quality and can be used to investigate the role of rare coding variants in human diseases.
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