Evaluation of the disease liability of CFTR variants.

Patrick R. Sosnay, Carlo Castellani, Mary Corey, Ruslan Dorfman, Julian Zielenski, Rachel Karchin, Christopher M. Penland, Garry R. Cutting

Research output: Contribution to journalArticlepeer-review


Over 1600 novel sequence variants in the CFTR gene have been reported to the CF Mutation Database (http://www.genet.sickkids.on.ca/cftr/Home.html). While about 25 mutations are well characterized by clinical studies and functional assays, the disease liability of most of the remaining mutations is either unclear or unknown. This gap in knowledge has implications for diagnosis, therapy selection, and counseling for patients and families carrying an uncharacterized CFTR mutation. This chapter will describe a critical approach to assessing the disease implications of CFTR mutations utilizing clinical data, literature review, functional testing, and bioinformatic in silico methods.

Original languageEnglish (US)
Pages (from-to)355-372
Number of pages18
JournalMethods in molecular biology (Clifton, N.J.)
StatePublished - 2011

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics


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