Genotype and Haplotype Reconstruction from Low-Coverage Short Sequencing Reads

摘要

Recent advances in high-throughput sequencing (HTS) technologies have led to orders of magnitude higher throughput compared to classic Sanger sequencing (see [3] for a review). Coupled with continuously decreasing sequencing costs, HTS data provides opportunities to study genome structure, function, and evolution at an unprecedented scale, and is profoundly transforming biomedical research.