02635nas a2200361   4500008004100000022001400041245014600055210006900201260001500270520148500285653002401770653000801794653001501802653000801817653001101825653001801836653002601854100001901880700002901899700001801928700002001946700002401966700002401990700002102014700001902035700002102054700003102075700003202106700002302138700002002161700002102181856007102202       2016                        eng d  a1943-781100aAssessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.0 aAssessment of Targeted NextGeneration Sequencing as a Tool for t  c2016 Jan 23 aCharcot-Marie-Tooth disease is characterized by broad genetic heterogeneity with >50 known disease-associated genes. Mutations in some of these genes can cause a pure motor form of hereditary motor neuropathy, the genetics of which are poorly characterized. We designed a panel comprising 56 genes associated with Charcot-Marie-Tooth disease/hereditary motor neuropathy. We validated this diagnostic tool by first testing 11 patients with pathological mutations. A cohort of 33 affected subjects was selected for this study. The DNAJB2 c.352+1G>A mutation was detected in two cases; novel changes and/or variants with low frequency (<1%) were found in 12 cases. There were no candidate variants in 18 cases, and amplification failed for one sample. The DNAJB2 c.352+1G>A mutation was also detected in three additional families. On haplotype analysis, all of the patients from these five families shared the same haplotype; therefore, the DNAJB2 c.352+1G>A mutation may be a founder event. Our gene panel allowed us to perform a very rapid and cost-effective screening of genes involved in Charcot-Marie-Tooth disease/hereditary motor neuropathy. Our diagnostic strategy was robust in terms of both coverage and read depth for all of the genes and patient samples. These findings demonstrate the difficulty in achieving a definitive molecular diagnosis because of the complexity of interpreting new variants and the genetic heterogeneity that is associated with these neuropathies.10aCharcot-Marie-Tooth10aCMT10aDiagnostic10aNGS10aPanels10arare diseases10aTargeted resequencing1 aLupo, Vincenzo1 aGarcia-Garcia, Francisco1 aSancho, Paula1 aTello, Cristina1 aGarcía-Romero, Mar1 aVillarreal, Liliana1 aAlberti, Antonia1 aSivera, Rafael1 aDopazo, Joaquín1 aPascual-Pascual, Samuel, I1 aMárquez-Infante, Celedonio1 aCasasnovas, Carlos1 aSevilla, Teresa1 aEspinós, Carmen  uhttp://www.sciencedirect.com/science/article/pii/S152515781500261501799nas a2200217   4500008004100000022001400041245013800055210006900193260001600262300001200278490000700290520106000297653001501357653003501372653000801407100002301415700002901438700002001467700002101487856007301508       2014                        eng d  a1362-496200aA web tool for the design and management of panels of genes for targeted enrichment and massive sequencing for clinical applications.0 aweb tool for the design and management of panels of genes for ta  c2014 May 26  aW83-W870 v423 aDisease targeted sequencing is gaining importance as a powerful and cost-effective application of high throughput sequencing technologies to the diagnosis. However, the lack of proper tools to process the data hinders its extensive adoption. Here we present TEAM, an intuitive and easy-to-use web tool that fills the gap between the predicted mutations and the final diagnostic in targeted enrichment sequencing analysis. The tool searches for known diagnostic mutations, corresponding to a disease panel, among the predicted patient’s variants. Diagnostic variants for the disease are taken from four databases of disease-related variants (HGMD-public, HUMSAVAR, ClinVar and COSMIC.) If no primary diagnostic variant is found, then a list of secondary findings that can help to establish a diagnostic is produced. TEAM also provides with an interface for the definition of and customization of panels, by means of which, genes and mutations can be added or discarded to adjust panel definitions. TEAM is freely available at: http://team.babelomics.org.10aDiagnostic10aTargeted enrichment sequencing10aWES1 aAlemán, Alejandro1 aGarcia-Garcia, Francisco1 aMedina, Ignacio1 aDopazo, Joaquín  uhttp://nar.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=24861626