Journal of Clinical Case Reports

Claudio Dello Russo

Publications

• Case Report
  Comparative Study of a CGH and Next Generation Sequencing (NGS) for Chromosomal Microdeletion and Microduplication Screening
  Author(s): Claudio Dello Russo, Gianluca Di Giacomo, Alvaro Mesoraca, Domenico Bizzoco, Megan R McCluskey, Arianna Paganelli and Claudio GiorlandinoClaudio Dello Russo, Gianluca Di Giacomo, Alvaro Mesoraca, Domenico Bizzoco, Megan R McCluskey, Arianna Paganelli and Claudio Giorlandino
  
  Background: Prenatal genetic diagnosis of rare disorders is undergoing in recent years a significant enhancement through the application of methods of massive parallel sequencing. Despite the quantity and quality of the data produced, just few analytical tools and software have been developed in order to identify structural and numerical chromosomal anomalies through NGS, mostly not compatible with bench top NGS platform and routine clinical diagnosis. Methods: We developed technical, bioinformatic, interpretive and validation pipelines for Next Generation Sequencing to identify SNPs, indels, aneuploidies, and CNVs (Copy Number Variations). Results: We show a new targeted resequencing approach applied to prenatal diagnosis. For sample processing we used an enrichment method for 4,813 genes library preparation; after sequencing our bioinformatic pipelines allowed bo.. Read More»
  DOI: 10.4172/2165-7920.1000455

  Abstract PDF