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News of the Week

[August 18, 2022] News of the Week

Rare disease diagnostics & researchIn the UK, children with developmental delays or intellectual disabilities are recommended to have an early Whole Exome or Whole Genome test.…

News of the Week

[August 11, 2022] News of the Week

Rare disease diagnostics & researchHealx's CEO wrote in Forbes that AI will play an important role in the discovery of rare disease drugs. Dr. Tim Guilliams…


The Good Doctors: Interview with Dr. Geu Ru Hong from Yonsei Severance Hospital

‘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.…

News of the Week

[August 4, 2022] News of the Week

Rare disease diagnostics & researchResearchers have used a new imaging technique to differentiate retinal lesions caused by Vitelliform Macular Dystrophy(VMD) by genetic variants. Differences in…

News of the Week

[July 28, 2022] News of the Week

Rare disease diagnostics & researchThe American College of Physicians(ACP) has issued a position paper that physicians should consider the benefits and harms of genetic testing…


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…

News of the Week

[July 22, 2022] News of the Week

Rare disease diagnostics & researchGenomics England researchers have published guidelines to aid in the interpretation of non-coding regions to improve the diagnostic rate of whole-genome sequencing-based…


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.…

Rare Disease Series

Rare disease series #28 - Ataxia with Vitamin E Deficiency (AVED)

“Surprisingly, the mother informed me that Emily had clumsiness since childhood. In addition, Emily had never walked like ordinary people, and she seemed to have frequent…

News of the Week

[July 14, 2022] News of the Week

Rare disease diagnostics & researchJohns Hopkins researchers have published a study showing that a lack of diverse racial and ethnic data negatively impacts the treatment and…

News of the Week

[July 8, 2022] News of the Week

Rare disease diagnostics & research3billion held a webinar to commemorate the launch of WGS-based genetic testing for rare diseases. Three speakers from the Medical Genetics Division…


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…

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