Mapping and sequencing of structural variation from eight human genomes

Genetic variation among individual humans occurs on many different scales, ranging from gross alterations in the human karyotype to single nucleotide changes. Here we explore variation on an intermediate scale--particularly insertions, deletions and inversions affecting from a few thousand to a few million base pairs. We employed a clone-based method to interrogate this intermediate structural variation in eight individuals of diverse geographic ancestry. Our analysis provides a comprehensive overview of the normal pattern of structural variation present in these genomes, refining the location of 1,695 structural variants. We find that 50% were seen in more than one individual and that nearly half lay outside regions of the genome previously described as structurally variant. We discover 525 new insertion sequences that are not present in the human reference genome and show that many of these are variable in copy number between individuals. Complete sequencing of 261 structural variants reveals considerable locus complexity and provides insights into the different mutational processes that have shaped the human genome. These data provide the first high-resolution sequence map of human structural variation--a standard for genotyping platforms and a prelude to future individual genome sequencing projects.     

综放沿空留巷围岩控制机理

采用适于分析岩层断裂和垮落的数值分析软件UDEC建立相应的数值分析模型,分析了留巷前巷道支护形式、充填体宽度、充填方式、充填体强度和端头不放顶煤长度等对综放沿空留巷的作用和效果.研究结果表明:留巷顶板下沉是老顶回转运动与围岩变形的综合反映;充填体上方顶煤位移由老顶岩层运动引起,由浮煤和充填体压缩变形以及充填体承载前预留变形量3部分组成;留巷前巷道支护形式无法控制老顶回转量,但锚网支护巷道留巷效果比架棚巷道好;端头留设一定长度的顶煤不放,有利于老顶回转触矸后形成具有自稳能力的承栽结构.当采用综放沿空留巷时,在保证顶煤及项板稳定前提下,合理利用围岩移动规律,确定合理充填方式和充填体强度,就能保证充填体稳定,达到很好的留巷效果.