[September 29, 2022] News of the Week
Rare disease diagnostics & researchResearchers at the University of Pennsylvania and the University of Florida are developing an AI algorithm to calculate the risk for rare…
[September 22, 2022] News of the Week
Rare disease diagnostics & researchCystinosis is a rare disease with fatal complications from abnormal cystine accumulation. Researchers at UC Santa Cruz, Stanford University, and the University…
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…
[September 15, 2022] News of the Week
Rare disease diagnostics & researchAlthough ACMG recommends that pediatric patients with specific symptoms undergo exome or genome sequencing tests as the first test, it still takes…
[September 8, 2022] News of the Week
Rare disease diagnostics & researchOxford Nanopore Technologies and Al Jalila Children's Specialty Hospital (AJCH) have launched a pilot program to diagnose undiagnosed rare disease patients. Through…
[September 1, 2022] News of the Week
Rare disease diagnostics & researchFive research groups collaborated to analyze 150,000 people’s genetics, including patients with autism spectrum disorder (ASD), developmental delay, and schizophrenia.…
[August 26, 2022] News of the Week
Rare disease diagnostics & researchIn addition to the primary finding, which provides the results suitable for the purpose of the test, the results of the genetic…
[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…
[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…