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Updated: May 23, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Expert consensus on clinical genome sequencing interpretation and reporting

Yulan Lu1, Guozhuang Li2, Yaqiong Wang3

  • 1Guangzhou Women and Children's Medical Center, Guangzhou 511400, China.

Yi Chuan = Hereditas
|March 11, 2025
PubMed

Keywords:
genetic rare diseasesgenetic testing reportgenome sequencinghigh-throughput sequencing data analysisvariant interpretation

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