[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.…
[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.…
[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…
[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…
[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 #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…
[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…
[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…