Related Experiment Video
Updated: Jun 8, 2026

09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Horizon: CNV interpretation through rapid automated ACMG-aligned pathogenicity analysis
Mariam Eldesouky1,2, Suhana Shiyas2, Amirul Islam1
1GenomeArc Inc, Mississauga, ON, Canada.
Human Genetics
|February 19, 2026
Summary
No abstract available in PubMed .
Keywords:
Clinical geneticsDiagnosticsPathogenicity assessmentPersonalized medicineVariant interpretationMore Related Videos
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