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Development of genomic reference materials for cystic fibrosis genetic testing.


ABSTRACT: The number of different laboratories that perform genetic testing for cystic fibrosis is increasing. However, there are a limited number of quality control and other reference materials available, none of which cover all of the alleles included in commercially available reagents or platforms. The alleles in many publicly available cell lines that could serve as reference materials have neither been confirmed nor characterized. The Centers for Disease Control and Prevention-based Genetic Testing Reference Material Coordination Program, in collaboration with members of the genetic testing community as well as Coriell Cell Repositories, have characterized an extended panel of publicly available genomic DNA samples that could serve as reference materials for cystic fibrosis testing. Six cell l

SUBMITTER: Pratt VM 

PROVIDER: S-EPMC2671335 | biostudies-literature | 2009 May

REPOSITORIES: biostudies-literature