Combinatorial sequencing-by-hybridization: Analysis of the NF1 gene

Annalisa Schirinzi, Snezana Drmanac, Bruno Dallapiccola, Steve Huang, Kathryn Scott, Alessandro De Luca, Donald Swanson, Radoje Drmanac, Saul Surrey, Paolo Fortina

Research output: Contribution to journalArticlepeer-review


Neurofibromatosis type 1 (NF1), one of the most common autosomal dominant disorders, is caused by mutations in the NF1 gene. A variety of methods are currently used in clinical settings to define disease-causing mutations. We describe microarray-based combinatorial sequencing-by-hybridization (cSBH), which overcomes some disadvantages associated with other techniques. Sequence readout of 2 kb was achieved on a single slide, with detection of base substitutions, insertions and small deletions. In addition, cSBH analysis of the entire NF1 gene demonstrates reproducibility, efficiency and reduced time; therefore, representing an alternative to extensive DNA sequence characterization.

Original languageEnglish
Pages (from-to)8-17
Number of pages10
JournalGenetic Testing
Issue number1
Publication statusPublished - Mar 2006

ASJC Scopus subject areas

  • Genetics(clinical)


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