{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Valencia CA"],"funding":["NCATS NIH HHS","NCRR NIH HHS","NINDS NIH HHS","PHS HHS"],"pagination":["233-46"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3349841"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["14(3)"],"pubmed_abstract":["Sequencing individual genes by Sanger sequencing is a time-consuming and costly approach to resolve clinically heterogeneous genetic disorders. Panel testing offers the ability to efficiently and cost-effectively screen all of the genes for a particular genetic disorder. We assessed the analytical sensitivity and specificity of two different enrichment technologies, solution-based hybridization and microdroplet-based PCR target enrichment, in conjunction with next-generation sequencing (NGS), to identify mutations in 321 exons representing 12 different genes involved with congenital muscular dystrophies. Congenital muscular dystrophies present diagnostic challenges due to phenotypic variability, lack of standard access to and inherent difficulties with muscle immunohistochemical stains, an"],"journal":["The Journal of molecular diagnostics : JMD"],"pubmed_title":["Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy."],"pmcid":["PMC3349841"],"funding_grant_id":["KL2 R0025009","1NS 069541-01","UL1 RR025008","UL1 TR000454","KL2 TR000455","TL1 TR000456","TL1 RR025010","RC1 NS069541"],"pubmed_authors":["Chin E","Valencia CA","Keong LM","Bonnemann C","Rhodenizer D","Hegde M","Rutkowski A","Bhide S","Littlejohn MR"],"additional_accession":[]},"is_claimable":false,"name":"Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.","description":"Sequencing individual genes by Sanger sequencing is a time-consuming and costly approach to resolve clinically heterogeneous genetic disorders. Panel testing offers the ability to efficiently and cost-effectively screen all of the genes for a particular genetic disorder. We assessed the analytical sensitivity and specificity of two different enrichment technologies, solution-based hybridization and microdroplet-based PCR target enrichment, in conjunction with next-generation sequencing (NGS), to identify mutations in 321 exons representing 12 different genes involved with congenital muscular dystrophies. Congenital muscular dystrophies present diagnostic challenges due to phenotypic variability, lack of standard access to and inherent difficulties with muscle immunohistochemical stains, an","dates":{"release":"2012-01-01T00:00:00Z","publication":"2012 May-Jun","modification":"2025-04-05T15:41:24.299Z","creation":"2019-03-27T00:53:22Z"},"accession":"S-EPMC3349841","cross_references":{"pubmed":["22426012"],"doi":["10.1016/j.jmoldx.2012.01.009"]}}