ArticleGenetic testing and molecular biomarkers2012
A low-cost exon capture method suitable for large-scale screening of genetic deafness by the massively-parallel sequencing approach.
Article in Genetic testing and molecular biomarkers, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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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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Who cites it
23 citing papers in PubMed, 45 citations in OpenAlex.
- Updates on Genetic Hearing Loss: From Diagnosis to Targeted Therapies.Journal of audiology & otology · 2024Article
- High Genetic Heterogeneity in Chinese Patients With Waardenburg Syndrome Revealed by Next-Generation Sequencing.Frontiers in genetics · 2021Article
- Genetic Information and Precision Medicine in Hearing Loss.Clinical and experimental otorhinolaryngology · 2020Article
- Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls.European journal of human genetics : EJHG · 2020Article
- VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation.BMC genetics · 2016Article
- Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss.American journal of medical genetics. Part A · 2015Article
- Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology.BMC medical genetics · 2015Article
- Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care.Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2015Review
- A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness.Journal of translational medicine · 2015Article
- Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.Genetics in medicine : official journal of the American College of Medical Genetics · 2014Article
- Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches.Journal of human genetics · 2014Article
- Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness.BMC ear, nose, and throat disorders · 2014Article
- A novel mutation in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.PloS one · 2014Article
- Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family.PloS one · 2014Article
- Unlocking the vault: next-generation museum population genomics.Molecular ecology · 2013Article
- Advancing genetic testing for deafness with genomic technology.Journal of medical genetics · 2013Article
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- Genetics: advances in genetic testing for deafness.Current opinion in pediatrics · 2012Review
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
Abstract
Current major barriers for using next-generation sequencing (NGS) technologies in genetic mutation screening on an epidemiological scale appear to be the high accuracy demanded by clinical applications and high per-sample cost. How to achieve high efficiency in enriching targeted disease genes while keeping a low cost/sample is a key technical hurdle to overcome. We validated a cDNA-probe-based approach for capturing exons of a group of genes known to cause deafness. Polymerase chain reaction amplicons were made from cDNA clones of the targeted genes and used as bait probes in hybridization for capturing human genomic DNA (gDNA) fragments. The cDNA library containing the clones of targeted genes provided a readily available, low-cost, and regenerable source for producing capture probes with standard molecular biology equipment. Captured gDNA fragments by our method were sequenced by the Illumina NGS platform. Results demonstrated that targeted exons captured by our approach achieved specificity, multiplexicity, uniformity, and depth of coverage suitable for accurate sequencing applications by the NGS systems. Reliable genotype calls for various homozygous and heterozygous mutations were achieved. The results were confirmed independently by conventional Sanger sequencing. The method validated here could be readily expanded to include all-known deafness genes for applications such as genetic hearing screening in newborns. The high coverage depth and cost benefits of the cDNA-probe-based exon capture approach may also facilitate widespread applications in clinical practices beyond screening mutations in deafness genes.
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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.