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Trio-Exome-Based Mendelian Inheritance Error Analysis Helps Identify Uniparental Disomies and Resolve Discordant NIPT

Ting Xu1, Qingwen Zeng2, Xinyi Lu1

  • 1Clinical Genetics Center, Shanghai Institute for Pediatric Research, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Prenatal Diagnosis
|August 12, 2026
PubMed
Abstract

Keywords:
mendelian inheritance errorpediatric rare diseaseprenatal cell‐free DNA screeningprenatal diagnosistrio exome sequencinguniparental disomy

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