December 13, 2016
Sponsored by
Agilent Technologies

Combining CNV and SNV Detection in a Single Test: An Alternative to Whole-Genome Sequencing


Lyon University Hospital 

This webinar discusses a genomic strategy that detects single nucleotide variants and copy number variants in a single assay. This approach serves as a cost-effective alternative to whole-genome sequencing and shows promise for the field of cytogenetics.

Our speaker, Nicolas Chatron of Lyon University Hospital, shares the results of a study using Agilent Technologies’ OneSeq target enrichment panel, which includes a chromosomal backbone of probes mimicking the design of microarray-based comparative genomic hybridization with a theoretical 300kb resolution.

In the study, Dr. Chatron and colleagues first tested 29 control samples using OneSeq followed by next generation sequencing. All CNVs larger than 300kb were detected and only two out of seven CNVs below 300 kb were missed. The investigators next performed a blinded analysis of 32 samples comparing OneSeq data with chromosomal microarray data. Dr. Chatron discusses the results of the blinded study during his presentation.

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