Publications by authors named "Erh-Chan Yeh"
Lumbar spinal stenosis (LSS) is a degenerative spinal condition characterized by the narrowing of the spinal canal, resulting in low back pain (LBP) and limited leg mobility. Twin and family studies have suggested that genetics contributes to disease progression. However, the genetic causes of familial LSS remain unclear.
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- * We found that 68.5% of patients received genetic diagnoses, with retinitis pigmentosa being the most commonly suspected condition, and discovered several common genetic variants linked to these disorders.
- * Additionally, we identified 87 unique genetic variants not previously reported in relation to IRD, which helped refine the clinical diagnoses for some patients, demonstrating our customized gene panel's effectiveness across diverse IRD phenotypes.
Article Synopsis
- Personalized medical care relies on predicting disease risks and medication responses, necessitating large-scale genomic resources and human genetic studies.
- The Taiwan Biobank has collected extensive genetic data from over 100,000 individuals, discovering significant variation among Han Chinese genetics and identifying numerous functional variants.
- Results reveal that a notable percentage of the population carries mutations related to hereditary diseases and cancer, emphasizing the potential of genetic testing to enhance clinical care and understand health trends.
The current human reference genome is predominantly derived from a single individual and it does not adequately reflect human genetic diversity. Here, we analyze 338 high-quality human assemblies of genetically divergent human populations to identify missing sequences in the human reference genome with breakpoint resolution. We identify 127,727 recurrent non-reference unique insertions spanning 18,048,877 bp, some of which disrupt exons and known regulatory elements.
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