Rare-variant Approaches to Complex Traits Across Population Biobanks

Download or read book Rare-variant Approaches to Complex Traits Across Population Biobanks written by Guhan Ram Venkataraman and published by . This book was released on 2021 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Complex diseases are a significant global burden, accounting for 70% of deaths in the U.S. annually. For example, 70,000 new cases of inflammatory bowel disease are diagnosed every year. Many such diseases have underlying genetic etiologies responsible for their pathology. Understanding their genetic basis could lead to more timely diagnosis and improved prognosis. Furthermore, human genetics presents an opportunity to identify new therapeutic targets. However, while much of the disease-causative common variation is well-documented, our understanding of rare, disease-contributory variation is sparse, largely due to the lack of power (limited sample size) and ascertainment to detect such variation with accuracy. While the above goal of understanding rare variation is not achievable with small cohort (n