[태그:] 영문

If you have been curious about GEBRA but did not want to start with a demo request, there is now an easier way to explore the platform. The new GEBRA tutorial experience is now live. You can walk through the actual GEBRA interface and see how the variant interpretation workflow progresses step by step—without scheduling…

When recurrent stroke and extensive white matter changes are observed together with findings that suggest a genetic cause — such as a family history or relatively early onset — hereditary cerebral small vessel disease (CSVD) should be considered. CADASIL and CARASIL are the representative conditions in this group. The two conditions are clinically quite similar,…

Newborn screening (NBS) programs differ significantly from one country to another. The number of conditions screened for can range from a single disorder to more than 40, depending on national health policies. Variations are driven by differences in evidence requirements, cost-effectiveness analyses, and healthcare system structures. The core goal remains universal: early detection of treatable…

Genomic sequencing can reveal long stretches of the genome in which the variants are predominantly homozygous. These regions of homozygosity (ROH) can provide important clues about an individual’s inheritance pattern and may help identify clinically relevant genetic mechanisms. One mechanism that can produce a large ROH is uniparental disomy (UPD). However, an ROH does not…