Capture the Stars and Read Through the Black Holes: My Personal Adventures in Medical Genomics

拍攝日期：2023/05/08
主講人：陳沛隆（台灣大學基因體暨蛋白體醫學研究所副教授兼所長）

The fields of genomic medicine and medical genomics are deeply intertwined and work harmoniously together, like a match made in heaven. As a geneticist and endocrinologist, I practice genomic medicine as a physician, while also serving as a laboratory director responsible for clinical genetic sequencing. My medical genomics research is inspired by the complex clinical challenges and unmet needs of next-generation sequencing (NGS). Identification of genetic variants is the crucial first step in genetic study and precision medicine. However, even in the current NGS era, certain genes/regions remain challenging. One important class of such genes are those with “star” alleles, such as HLA genes, KIR genes, genes encoding adaptive immune receptor repertoire (gAIRR, including BCR and TCR genes), and CYP genes. These genes are well-known for their high level of polymorphism and have paramount importance in immunogenomics and pharmacogenomics. Another class of genes are the “black hole” genes, for which short NGS reads can be aligned to the genes/regions but with poor mapping quality. Good/notorious examples include highly homologous genes, particularly those located in segmental duplications, such as PKD1, CYP21A2, STRC, and CYP2D6, among others. To address these challenges, various modalities are critical, including capture-based targeted sequencing, long-read sequencing, linked-read sequencing, database integration, high-quality reference materials, bioinformatics, and artificial intelligence. It has never been a better time for genomic medicine and medical genomics than today. Through collaborating with experts and accelerating our innovations, I believe that we can continue to benefit patients and push the frontiers of science forward.

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