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cbs's Introduction

Hi there

I’m currently working on genetic testing for disease screening and diagnosis

  • Non-Invasive Prenatal Screening Testing (NIPT)
  • WGS/WES for Mendelian Disorder Diagnosis
  • Preimplantation Genetic Testing (PGT-A, PGT-M, PGT-SR, PGT-P)
  • Automation of Variant Pathogenicity Curatio (e.g. ACMG Guideline)
  • Cloud Computing in Bioinformatics
  • Cutting-edge Technology in Genetic Diagnosis (T2T-CHM13、stLFR、eccDNA)

cbs's People

Contributors

jeremy9959 avatar

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