The whole exome: Completing the genomic picture using exon-targeted aCGH

Lora J. Bean, PhD, FACMG

Laboratory Director, Emory Genetics Laboratory, Atlanta, Georgia, USA

In this talk, Lora J. Bean, PhD, FACMG, presented valuable insights into the use of microarrays and NGS in parallel for CNV detection. The Laboratory Director of Emory Genetics emphasized that while CNV calls from NGS data are becoming increasingly popular, they must be confirmed due to the significant false positive rate associated with them.

One of the critical points Lora highlighted was that CNV detection varies based on coverage, quality, and sequence context. Some regions are easier to detect than others, and the larger the CNV, the greater the accuracy of CNV detection. Additionally, the detection of CNVs involving single exons versus multiple exons can also affect the reliability of CNV calls.

Although NGS data has its advantages, microarray data is still considered more reliable for CNV detection as array technology is a reliable and established technology. Additionally, the reliability of CNV detection can vary based on coverage, quality, and sequence context. As such, the use of microarray technology remains a reliable option for CNV detection in exome sequencing context.

Recent publications from the speaker

1. Unparalleled power of genome sequencing in screening ostensibly healthy newborns and children: Findings from the first real-world dataset
2. How does multiomics help variant reclassification?
3. Real-world evidence demonstrating why genome sequencing should be recommended as the first-tier genetic test

Disclaimer

This presentation is intended for educational purposes only and does not replace independent professional judgment. Statements of fact and opinions expressed are those of the presenters individually and, unless expressly stated to the contrary, are not the opinion or position of the Oxford Gene Technology Group (OGT). OGT does not endorse or approve, and assumes no responsibility for, the content, accuracy or completeness of the information presented.

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