Diagnosis and Treatment of SLC5A6-Related Neuropathy: Insights from Genomic Sequencing Academic Background Genomics has always played an important role in the study and treatment of human diseases. The sodium-dependent multivitamin transporter (SMVT) encoded by the SLC5A6 gene is responsible for the uptake of biotin, pantothenic acid, and α-lipoic ...

Framework for Evaluation and Reporting of Incidental Findings in Clinical Genome Sequencing Research Background In current clinical practice, clinical genome sequencing (CGS) is gradually becoming an important means for diagnosing rare genetic diseases. However, incidental findings (IFs) are often encountered in genome sequencing, which are unexpec...