ArticleHuman mutation2012
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.
Article in Human mutation, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 34 citations in OpenAlex.
- Development of self-phenotyping tools to empower patients and improve diagnostics.EBioMedicine · 2025Article
- Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study.PloS one · 2020Article
- Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton.Journal of genetics · 2016Article
- Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data.BMC genomics · 2015Article
- Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis.Journal of neuromuscular diseases · 2015Article
- High throughput exome coverage of clinically relevant cardiac genes.BMC medical genomics · 2014Article
- Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders.Orphanet journal of rare diseases · 2014Article
- Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.BMC medical genetics · 2014Article
- Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy.European journal of human genetics : EJHG · 2014Article
- Current status and new features of the Consensus Coding Sequence database.Nucleic acids research · 2014Article
- Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.European journal of human genetics : EJHG · 2013Article
- Next generation sequencing for neurological diseases: new hope or new hype?Clinical neurology and neurosurgery · 2013Review
- Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered.PloS one · 2012Article
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12 authors at 4 institutions in 2 countries.
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Abstract
In this study, we assess exome sequencing (ES) as a diagnostic alternative for genetically heterogeneous disorders. Because ES readily identified a previously reported homozygous mutation in the CAPN3 gene for an individual with an undiagnosed limb girdle muscular dystrophy, we evaluated ES as a generalizable clinical diagnostic tool by assessing the targeting efficiency and sequencing coverage of 88 genes associated with muscle disease (MD) and spastic paraplegia (SPG). We used three exome-capture kits on 125 individuals. Exons constituting each gene were defined using the UCSC and CCDS databases. The three exome-capture kits targeted 47-92% of bases within the UCSC-defined exons and 97-99% of bases within the CCDS-defined exons. An average of 61.2-99.5% and 19.1-99.5% of targeted bases per gene were sequenced to 20X coverage within the CCDS-defined MD and SPG coding exons, respectively. Greater than 95-99% of targeted known mutation positions were sequenced to ≥1X coverage and 55-87% to ≥20X coverage in every exome. We conclude, therefore, that ES is a rapid and efficient first-tier method to screen for mutations, particularly within the CCDS annotated exons, although its application requires disclosure of the extent of coverage for each targeted gene and supplementation with second-tier Sanger sequencing for full coverage.
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