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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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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
PubMed
Summary

No abstract available in PubMed .

Keywords:
Clinical geneticsDiagnosticsPathogenicity assessmentPersonalized medicineVariant interpretation

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