2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Development and validation of a clinical nanopore sequencing assay to confirm microdeletions and microduplications

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A study was conducted to develop and validate a clinical nanopore sequencing assay for confirming microdeletions and microduplications. The researchers used MyOme's sequencing platform and analyzed data from patients with known deletions or duplications. They compared the results to previous short-read sequencing data and assessed the sensitivity, specificity, and accuracy of the nanopore assay.<br /><br />The results showed that the nanopore assay was able to accurately identify and confirm the presence of microdeletions and microduplications. The assay also provided additional information such as parent-of-origin and methylation status. The researchers used scatter plots and read depth plots to visualize the sequencing data and assess the reliability of the assay.<br /><br />Overall, the study demonstrated the feasibility and reliability of using clinical nanopore sequencing for confirming microdeletions and microduplications. The researchers highlighted the potential of this technology for clinical applications, particularly in the field of genetic testing and diagnosis. They also mentioned the need for further validation and optimization of the assay, as well as the potential for integrating it with other genomic technologies to enhance its diagnostic capabilities.<br /><br />In conclusion, the study successfully developed and validated a clinical nanopore sequencing assay for confirming microdeletions and microduplications. The assay showed good sensitivity, specificity, and accuracy in identifying these genetic variations. The researchers emphasized the potential of this technology for clinical use and highlighted the need for further research and development in this area.

Asset Subtitle

Presenting Author - Akash Kumar, MD PhD; Co-Author - Jacquelin Botello, MS; Co-Author - Donna Hongo, PhD; Co-Author - Premal Shah, PhD; Co-Author - Brynn Levy, M.Sc.(Med).,PhD.; Co-Author - Kate Im, PhD; Co-Author - Stephanie Greer, MS;

Meta Tag

Bioinformatics

Chromosomal Abnormalities

Genome sequencing

Genomic Methodologies

NextGen Sequencing

Sequencing

Co-Author Jacquelin Botello, MS

Co-Author Donna Hongo, PhD

Co-Author Premal Shah, PhD

Co-Author Brynn Levy, M.Sc.(Med).,PhD.

Co-Author Kate Im, PhD

Co-Author Stephanie Greer, MS

Presenting Author Akash Kumar, MD PhD

Keywords

clinical nanopore sequencing assay

microdeletions

microduplications

MyOme's sequencing platform

short-read sequencing data

sensitivity

specificity

accuracy

parent-of-origin

methylation status