computational and statistical approaches to analyzing variants identified by exome sequencing计算和统计方法分析变异被外显子组测序.pdfVIP

Stitziel et al. Genome Biology 2011, 12:227 /2011/12/9/227 R E V I E W Computational and statistical approaches to analyzing variants identied by exome sequencing 1,2† 2,3† 2,3 Nathan O Stitziel , Adam Kiezun and Shamil Sunyaev * process for identifying variants in next-generation Abstract sequencing (NGS) studies and then discuss strategies for New sequencing technology has enabled the identifying the causal variant in Mendelian disorders identication of thousands of single nucleotide among the total number of variants identified. We also polymorphisms in the exome, and many discuss strategies for identifying the causal gene(s) in computational and statistical approaches to identify complex diseases among all genes in the genome, before disease-association signals have emerged. outlining some challenges facing current exome sequencing studies. From quantitative trait locus mapping and linkage Variant discovery in exome sequencing projects analysis to genome-wide association studies (GWASs), NGS methods have been developed that harness genetic markers have been used to locate causal genes massively parallel DNA sequencing [4] and enable large- underlying Mendelian and complex traits with impressive scale sequencing projects that have applications ranging success: the molecular basis