A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

Heng Li

Abstract: : Most existing methods for DNA sequence analysis rely on accurate sequences or genotypes. However, in applications of the next-generation sequencing (NGS), accurate genotypes may not be easily obtained (e.g. multi-sample low-coverage sequencing or somatic mutation discovery). These applications press for the development of new methods for analyzing sequence data with uncertainty.