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Updated: May 5, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Tailoring monogenic disease carrier screening panels for Chinese populations: The importance of considering regional

Wei Hou1, Xiaolin Fu2, Xiaoxiao Xie2

  • 1Department of Gynecology and Obstetrics, The Seventh Medical Center of Chinese PLA General Hospital, Beijing, China.

European Journal of Medical Genetics
|February 20, 2025
PubMed

Keywords:
Carrier frequencyCarrier screeningChinese populationGenetic counselingMonogenic diseasesRegional differences

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