ArticleBoneKEy reports2013
Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.
Article in BoneKEy reports, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 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
17 citing papers in PubMed, 31 citations in OpenAlex.
- Clinical and molecular genetic description of a Marfan-like syndrome in a Golden Retriever puppy.Journal of veterinary internal medicine · 2026Article
- Article
- Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature.Molecular genetics & genomic medicine · 2023Review
- Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2023Article
- Expanding the genetic and clinical spectrum of osteogenesis imperfecta: identification of novel rare pathogenic variants in type I collagen-encoding genes.Frontiers in endocrinology · 2023Article
- OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants.Frontiers in cell and developmental biology · 2022Article
- Gene Testing in Everyday Clinical Use: Lessons from the Bone Clinic.Journal of the Endocrine Society · 2021Review
- The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2020Article
- Massively Parallel Sequencing for Rare Genetic Disorders: Potential and Pitfalls.Frontiers in endocrinology · 2020Review
- Osteosynthesis of a Multifragment Femoral Shaft Fracture and Peri-Implant Refracture in an 83-Year-Old Patient with Osteogenesis Imperfecta.Case reports in orthopedics · 2020Article
- Diagnosing rare diseases after the exome.Cold Spring Harbor molecular case studies · 2018Review
- Lumbosacral stenosis in Labrador retriever military working dogs - an exomic exploratory study.Canine genetics and epidemiology · 2017Article
- New insights into the performance of human whole-exome capture platforms.Nucleic acids research · 2015Article
- Review
- Response to an expanding role of biomarkers in acute aortic syndromes.Clinical cardiology · 2014Article
- Developing genomic knowledge bases and databases to support clinical management: current perspectives.Pharmacogenomics and personalized medicine · 2014Review
- Lessons from next-generation sequencing in genetic skeletal disorders.BoneKEy reports · 2014Article
Corrections and comments
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Authors and funding
15 authors at 4 institutions in 3 countries.
Funding
Abstract
Osteogenesis imperfecta (OI) and Marfan syndrome (MFS) are common Mendelian disorders. Both conditions are usually diagnosed clinically, as genetic testing is expensive due to the size and number of potentially causative genes and mutations. However, genetic testing may benefit patients, at-risk family members and individuals with borderline phenotypes, as well as improving genetic counseling and allowing critical differential diagnoses. We assessed whether whole exome sequencing (WES) is a sensitive method for mutation detection in OI and MFS. WES was performed on genomic DNA from 13 participants with OI and 10 participants with MFS who had known mutations, with exome capture followed by massive parallel sequencing of multiplexed samples. Single nucleotide polymorphisms (SNPs) and small indels were called using Genome Analysis Toolkit (GATK) and annotated with ANNOVAR. CREST, exomeCopy and exomeDepth were used for large deletion detection. Results were compared with the previous data. Specificity was calculated by screening WES data from a control population of 487 individuals for mutations in COL1A1, COL1A2 and FBN1. The target capture of five exome capture platforms was compared. All 13 mutations in the OI cohort and 9/10 in the MFS cohort were detected (sensitivity=95.6%) including non-synonymous SNPs, small indels (<10 bp), and a large UTR5/exon 1 deletion. One mutation was not detected by GATK due to strand bias. Specificity was 99.5%. Capture platforms and analysis programs differed considerably in their ability to detect mutations. Consumable costs for WES were low. WES is an efficient, sensitive, specific and cost-effective method for mutation detection in patients with OI and MFS. Careful selection of platform and analysis programs is necessary to maximize success.
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.