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From guides to tips, get insights into rare diseases & genetic testing
49 posts

WES WGS Panels: Which is the best NGS approach?

The rapidly decreasing cost and time required for next-generation sequencing (NGS) has expanded its application, particularly in the diagnosis of rare diseases. Annually, 250 gene-disease associations…


Rare Diseases in Movies: The Life of Patients with Rare Diseases

Do You Ever Wonder About the Lives of Patients with Rare Diseases? Although a “rare disease” can mean different things, it generally refers to a disease…


History and genetic diseases

How hereditary diseases changed our history—from ancient Egypt and the House of Habsburg to the House of Romanov Introduction Whether in the East or the…


Why we strive to include different ethnic groups in rare disease research

Underrepresentation in medical research Historically, there has been underrepresentation of different groups in clinical studies. While recent efforts have been made to represent all members of…


Psychological status of patients with rare diseases and their caregivers that doctors should know about

According to the Korea Disease Control and Prevention Agency, 16.4% of rare disease patients visit four or more hospitals, and 6.1% of them struggle…


Global rare disease diagnosis cooperation using ClinVar

What is ClinVar?ClinVar is a public database operated by the U.S.A. National Institutes of Health (N.I.H.), in which information about variants…


Is the Autism Spectrum Disorder (ASD) featured in Extraordinary Attorney Woo a genetic disorder?

The television series Extraordinary Attorney Woo streaming on Netflix has become a global box office hit. As proof of its success, it entered the All-time top…


Limitation of whole genome sequencing

Until now, we have mainly talked about the Whole Exome Sequencing (WES) -based diagnostic tests. However, as introduced in the ‘Limitation of Whole Exome Sequencing’, there…


3billion’s diagnostic approach for Huntington disease

One day, 3billion received a blood sample from an elderly European woman suffering from ataxia, on which whole-exome sequencing (WES) was performed to determine its cause.…


Validation of poor-quality pathogenic variants from next-generation sequencing results

Although whole exome sequencing (WES) can efficiently cover more than 90% of the protein coding sequence (CDS), some cases make it very difficult to accurately detect…


Easy Explanation of Privacy Preserving Technique for Genomic Data Sharing

Summary The increasing integration of multiple datasets for a wide range of studies also poses significant privacy concerns. Even if data are processed under privacy regulations…


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…

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