title: A template for mutational data analysis of the CFTR gene.
abstract: BACKGROUND
  Automated DNA sequencing produces large amounts of data that need to be analyzed by appropriate software. Personalization of software can be a difficult and time-consuming task, especially if a large number of mutations have to be analyzed.
  
  
  METHODS
  The Applied BioSystems SeqScape software, based on the KB basecaller algorithm, is a versatile tool that can be used for mutational analysis and for data quality assessment of sequences belonging to any gene of interest. Using this software we analyzed over 1400 sequences of CFTR exons and adjacent intronic zones, representing over 500,000 bases.
  
  
  RESULTS
  We present an up to date specific template and a linked set of instructions for automated labeling of all point mutations and polymorphisms of the CFTR gene, whose mutations cause cystic fibrosis (the most common genetic disease among Caucasian individuals). We also describe our refined software settings for mutational analysis, in order to keep to a minimum the need of manual validation.
  
  
  CONCLUSIONS
  The use of our template greatly simplifies the mutational analysis of the CFTR gene, reducing human intervention. In our opinion, it might not only be useful to researchers that already perform CFTR mutational analysis by sequencing methods but it should also improve the approach in those laboratories that already use ABI PRISM instrumentation for a limited mutational analysis of the CFTR gene. Similar mutational templates can also be used for other disease causing genes, thus improving molecular genetics protocols.
authors.affiliation: Department of Cellular Biotechnologies and Hematology, Sapienza University of Rome, Rome, Italy.
authors.forename: Giampiero
authors.initials: G
authors.lastname: Ferraguti
authors.forename: Silvia
authors.initials: S
authors.lastname: Pierandrei
authors.forename: Sabina Maria
authors.initials: SM
authors.lastname: Bruno
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Ceci
authors.forename: Roberto
authors.initials: R
authors.lastname: Strom
authors.forename: Marco
authors.initials: M
authors.lastname: Lucarelli
mesh_terms: D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods*; D054643:INDEL Mutation / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D012984:Software
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator