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Genie Lee

5 posts

Cardiac genetic testing, Fabry disease: Interview with Dr. Geu Ru Hong

‘The Good Doctors’ is a programmed series of interviews to meet doctors who face patients with rare diseases every day and hear their stories on site.…


Comparing reanalysis policies of 5 rare disease diagnostics companies

Although many are struggling, the initial diagnosis rate of rare diseases remains low. It is because there is still insufficient information and the symptoms are very…


Comparison of CNV analysis methods: Array CGH vs NGS

Rare genetic disorders are caused by variants in major functional genes. Most are SNV or INDEL variants, but SVs, such as CNVs or chromosomal variants, can…


Reanalysis and reclassification, why are they important?

With the rapid development of genomic medicine and the increased use of WES/WGS tests, it is crucial to note the importance of continuous reanalysis versus…


Why do WES test results vary despite the same sequencing method?

Recently, WES/WGS tests have become more widely used to diagnose patients with rare diseases. Even if the same WES method is performed on the same…

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