Insights
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…
Insights
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…
Insights
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…
Insights
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…