How Digital Technology Will Contribute to Future Innovations in Healthcare / 임상당뇨병

Digital technology is dramatically transforming today's healthcare. Over the past decade, exponential advances in digital technology, especially in smart phones, have radically changed many aspects of everyday life. Medicine will be the next aspect. Maturation of innovative digital technologies such as next generation sequencing, internet of things, cloud computing and artificial intelligence has generated a perfect storm to revolutionize the status quo in medicine. In the near future, clinical practice will be much different than it is today. It is important to pay attention to the changes and be prepared for the inevitable tsunami of transformation. In this paper I will discuss how digital technology has been changing healthcare.

Detection of hydin Gene Duplication in Personal Genome Sequence Data

Human personal genome sequencing can be done with high efficiency by aligning a huge number of short reads derived from various next generation sequencing (NGS) technologies to the reference genome sequence. One of the major obstacles is the incompleteness of human reference genome. We tried to analyze the effect of hidden gene duplication on the NGS data using the known example of hydin gene. Hydin2 , a duplicated copy of hydin on chromosome 16q22, has been recently found to be localized to chromosome 1q21, and is not included in the current version of standard human genome reference. We found that all of eight personal genome data published so far do not contain hydin2, and there is large number of nsSNPs in hydin. The heterozygosity of those nsSNPs was significantly higher than expected. The sequence coverage depth in hydin gene was about two fold of average depth. We believe that these unique finding of hydin can be used as useful indicators to discover new hidden multiplication in human genome.