Article

Prenatal Whole-exome Sequencing in a Russian Clinical Cohort: Diagnostic Yield, Indications, and Spectrum of Molecular Findings

2026-08-01

Abstract excerpt

Abstract Objective: Prenatal whole-exome sequencing (prWES) is a promising molecular diagnostic tool that can be used to clarify the genetic etiology of prenatally detected abnormalities, including cases in which standard genetic testing fails to establish their cause. However, data on its diagnostic yield and the spectrum of detectable abnormalities in Russian clinical practice remain limited. Objective: To perfo...

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Literature Corpus work: d5de08ea-8934-5df6-aab9-3428528a3e75
DOI: 10.1134/s1990519x26600237

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