线粒体亚当和结构变异体大于点突变作为性状，疾病表型和性别决定的更强候选者的揭示
The unmasking of Mitochondrial Adam and Structural Variants larger than point mutations as stronger candidates for traits, disease phenotype and sex determination
摘要：
背景：基因组中的结构变异（SV）可以与疾病或特征表型相关。变异有多种类型，这是一个挑战，不仅要准确确定变异，还要进行下游统计和分析程序。方法：结构变异，SV，大小为1碱基对到1000碱基对，其精确的断点和单核苷酸多态性，SNPs，被确定为一个家庭的成员。使用配对末端DNA序列，使用ABySS和SOAPdenovo组装工具的最佳度量组装基因组。结果如下：一个有趣的发现是，线粒体DNA可能有父系遗传泄漏，或者突变可能来自母系遗传。还发现线粒体DNA比SNP更不容易发生SV重排，这为确定种族和物种之间的祖先和分歧提出了更好的标准。个体的性别决定被发现使用SV的核苷酸碱基对Y染色体的调用来强烈证实，比SNP更强烈地确定。我们注意到，当与参考序列相比时，通常SV核苷酸的总和与个体的SNP的总和相比存在更大的方差-并且因此标准偏差，并且因此SV用作表征个体的给定性状或表型或确定性别的更强手段。HLA基因座中的SV和SNP也将用作用于确定患者的器官移植成功和先天疾病易感性的医学转化方法。
英文摘要：
Background: Structural Variations, SVs, in a genome can be linked to a disease or characteristic phenotype. The variations come in many types and it is a challenge, not only determining the variations accurately, but also conducting the downstream statistical and analytical procedure. Method: Structural variations, SVs, with size 1 base-pair to 1000s of base-pairs with their precise breakpoints and single-nucleotide polymorphisms, SNPs, were determined for members of a family. The genome was assembled using optimal metrics of ABySS and SOAPdenovo assembly tools using paired-end DNA sequence. Results: An interesting discovery was the mitochondrial DNA could have paternal leakage of inheritance or that the mutations could be high from maternal inheritance. It is also discovered that the mitochondrial DNA is less prone to SVs re-arrangements than SNPs, which propose better standards for determining ancestry and divergence between races and species over a long-time frame. Sex determination of an individual is found to be strongly confirmed using calls of nucleotide bases of SVs to the Y chromosome, more strongly determined than SNPs. We note that in general there is a larger variance -and thus the standard deviation, in the sum of SVs nucleotide compared to sum of SNPs of an individual when compared to reference sequence, and thus SVs serve as a stronger means to characterize an individual for a given trait or phenotype or to determine sex. The SVs and SNPs in HLA loci would also serve as a medical transformation method for determining the success of an organ transplant for a patient, and predisposition to diseases apriori.
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