Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2013-09

AUTHORS

Aurélie Vasson, Céline Leroux, Lucie Orhant, Mathieu Boimard, Aurélie Toussaint, Chrystel Leroy, Virginie Commere, Tiffany Ghiotti, Nathalie Deburgrave, Yoann Saillour, Isabelle Atlan, Corinne Fouveaut, Cherif Beldjord, Sophie Valleix, France Leturcq, Catherine Dodé, Thierry Bienvenu, Jamel Chelly, Mireille Cossée

ABSTRACT

The frequency of disease-related large rearrangements (referred to as copy-number mutations, CNMs) varies among genes, and search for these mutations has an important place in diagnostic strategies. In recent years, CGH method using custom-designed high-density oligonucleotide-based arrays allowed the development of a powerful tool for detection of alterations at the level of exons and made it possible to provide flexibility through the possibility of modeling chips. The aim of our study was to test custom-designed oligonucleotide CGH array in a diagnostic laboratory setting that analyses several genes involved in various genetic diseases, and to compare it with conventional strategies. To this end, we designed a 12-plex CGH array (135k; 135 000 probes/subarray) (Roche Nimblegen) with exonic and intronic oligonucleotide probes covering 26 genes routinely analyzed in the laboratory. We tested control samples with known CNMs and patients for whom genetic causes underlying their disorders were unknown. The contribution of this technique is undeniable. Indeed, it appeared reproducible, reliable and sensitive enough to detect heterozygous single-exon deletions or duplications, complex rearrangements and somatic mosaicism. In addition, it improves reliability of CNM detection and allows determination of boundaries precisely enough to direct targeted sequencing of breakpoints. All of these points, associated with the possibility of a simultaneous analysis of several genes and scalability 'homemade' make it a valuable tool as a new diagnostic approach of CNMs. More... »

PAGES

977

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ejhg.2012.279

    DOI

    http://dx.doi.org/10.1038/ejhg.2012.279

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1031987890

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/23340513


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