Statistical Approaches for Next-Generation Sequencing Data
Contributors: Lange, Christoph; Lin, Xihong; Weiss, Scott
Published: 2013
Language: eng
Description: During the last two decades, genotyping technology has advanced rapidly, which enabled the tremendous success of genome-wide association studies (GWAS) in the search of disease susceptibility loci (DSLs). However, only a small fraction of the overall predicted heritability can be explained by the DSLs discovered. One possible explanation for this "missing heritability" phenomenon is that many causal variants are rare. The recent development of high-throughput next-generation sequencing (NGS) technology provides the instrument to look closely at these rare variants with precision and efficiency. However, new approaches for both the storage and analysis of sequencing data are in imminent needs.
Notes: Keywords: Genetic Association Analysis, Genetic epidemiology, GWAS, NGS, Statistical Genetics.

Thesis Ph.D. Harvard University 2013