ReviewFrontiers of medicine2014
Exome sequencing greatly expedites the progressive research of Mendelian diseases.
Review in Frontiers of medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed.
- Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.Annals of medicine · 2025Article
- Next-generation sequencing in cancer diagnosis and treatment: clinical applications and future directions.Discover oncology · 2025Review
- Omics sciences for cervical cancer precision medicine from the perspective of the tumor immune microenvironment.Oncology research · 2025Review
- Sertoli cell-only syndrome: advances, challenges, and perspectives in genetics and mechanisms.Cellular and molecular life sciences : CMLS · 2023Review
- Article
- Review
- Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM).Antioxidants (Basel, Switzerland) · 2022Article
- Identification of potential modifier genes in Chinese patients with Wilson disease.Metallomics : integrated biometal science · 2022Article
- Current understanding of the genetics of tourette syndrome.Biomedical journal · 2022Review
- Novel germline mutation in lung cancer pedigrees establishesAnnals of translational medicine · 2022Article
- The Utility of Whole Exome Sequencing in Diagnosing Pediatric Neurological Disorders.Balkan journal of medical genetics : BJMG · 2020Article
- Next Generation Sequencing and Bioinformatics Analysis of Family Genetic Inheritance.Frontiers in genetics · 2020Review
- Redefining infantile-onset multisystem phenotypes of coenzyme QJournal of translational genetics and genomics · 2020Article
- Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Ximmer: a system for improving accuracy and consistency of CNV calling from exome data.GigaScience · 2018Article
- Unraveling Novel Mechanisms of Neurodegeneration Through a Large-Scale Forward Genetic Screen inFrontiers in genetics · 2018Review
- Progress in Genetic Studies of Tourette's Syndrome.Brain sciences · 2017Review
- Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies.Scientific reports · 2017Article
- Recent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing Technology.Psychiatry investigation · 2016Review
- Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.Annals of neurology · 2016Article
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1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The advent of whole-exome sequencing (WES) has facilitated the discovery of rare structure and functional genetic variants. Combining exome sequencing with linkage studies is one of the most efficient strategies in searching disease genes for Mendelian diseases. WES has achieved great success in the past three years for Mendelian disease genetics and has identified over 150 new Mendelian disease genes. We illustrate the workflow of exome capture and sequencing to highlight the advantages of WES. We also indicate the progress and limitations of WES that can potentially result in failure to identify disease-causing mutations in part of patients. With an affordable cost, WES is expected to become the most commonly used tool for Mendelian disease gene identification. The variants detected cumulatively from previous WES studies will be widely used in future clinical services.
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