the exome factor外显子组的因素.pdf

Stower Genome Biology 2011, 12:407 /2011/12/9/407 EDITORIAL The exome factor Hannah Stower prioritization of variants from exome sequencing data. Abstract With typically 15,000 to 20,000 variants discovered per Exome sequencing is rapidly expanding both as a exome, whittling these variants down to those that are technique and in its biological applications. likely to be causing disease is a significant challenge. An abundance of tools has been developed for this task, and the Review therefore sets out to consider the relative e decision to launch a special issue of Genome Biology merits of a number of the leading examples of these. coincided with my first American Society of Human Progressing to new methods, Katherine Smith et al. [4] Genetics meeting in Washington, DC [1]; exciting work present a novel method to further simplify variant using exome capture sequencing had been presented on prioritization – demonstrating that genetic linkage melanoma, somatic mutations in induced pluripotent mapping can be applied to single nucleotide stem cells and numerous single gene disorders. e polymorphism (SNP) genotypes extracted from exome technique strongly enriches a sequencing sample for data, removing the need for array-based genotyping. exons by using DNA capture probes targeted only to the