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Deep genome sequencing and variation analysis of 13 inbred mouse strains defines candidate phenotypic alleles private variation and homozygous truncating mutations

机译:对13个近交小鼠品系的深度基因组测序和变异分析确定了候选表型等位基因私人变异和纯合的截断突变

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摘要

BackgroundThe Mouse Genomes Project is an ongoing collaborative effort to sequence the genomes of the common laboratory mouse strains. In 2011, the initial analysis of sequence variation across 17 strains found 56.7 M unique single nucleotide polymorphisms (SNPs) and 8.8 M indels. We carry out deep sequencing of 13 additional inbred strains (BUB/BnJ, C57BL/10J, C57BR/cdJ, C58/J, DBA/1J, I/LnJ, KK/HiJ, MOLF/EiJ, NZB/B1NJ, NZW/LacJ, RF/J, SEA/GnJ and ST/bJ), cataloguing molecular variation within and across the strains. These strains include important models for immune response, leukaemia, age-related hearing loss and rheumatoid arthritis. We now have several examples of fully sequenced closely related strains that are divergent for several disease phenotypes.
机译:背景小鼠基因组计划是一项正在进行的合作工作,旨在对常见实验室小鼠品系的基因组进行测序。 2011年,对17个菌株的序列变异进行的初步分析发现56.7M独特的单核苷酸多态性(SNP)和8.8M indels。我们对另外13个自交系(BUB / BnJ,C57BL / 10J,C57BR / cdJ,C58 / J,DBA / 1J,I / LnJ,KK / HiJ,MOLF / EiJ,NZB / B1NJ,NZW / LacJ进行了深度测序,RF / J,SEA / GnJ和ST / bJ),对菌株内和菌株间的分子变异进行分类。这些菌株包括免疫反应,白血病,与年龄有关的听力损失和类风湿关节炎的重要模型。现在,我们有几个完全序列紧密相关的菌株的例子,这些菌株对于几种疾病的表型是不同的。

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