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Updated: Sep 9, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

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Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic

Hiba J Mustafa1, Parisa Najjariasl2, Faezeh Aghajani3

  • 1Division of Maternal-Fetal Medicine, The Fetal Center at Riley Children's and Indiana University Health, Indiana University School of Medicine, Riley Children's Hospital, Indianapolis, Indiana, USA.

Prenatal Diagnosis
|September 4, 2025
PubMed
Abstract

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