Mouse Genomes Project - Query SNPs, indels or SVs
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Mouse genomic variation and its effect on phenotypes and gene regulation.
The Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1HH, UK.
We report genome sequences of 17 inbred strains of laboratory mice and identify almost ten times more variants than previously known. We use these genomes to explore the phylogenetic history of the laboratory mouse and to examine the functional consequences of allele-specific variation on transcript abundance, revealing that at least 12% of transcripts show a significant tissue-specific expression bias. By identifying candidate functional variants at 718 quantitative trait loci we show that the molecular nature of functional variants and their position relative to genes vary according to the effect size of the locus. These sequences provide a starting point for a new era in the functional analysis of a key model organism.
Funded by: Biotechnology and Biological Sciences Research Council: BB/F022697/1; Cancer Research UK: A6997; Medical Research Council: G0800024, MC_U127561112, MC_U137761446; NHLBI NIH HHS: K25 HL080079; NLM NIH HHS: 2T15LM007359; Wellcome Trust: 077192, 079912, 082356, 083573, 083573/Z/07/Z, 085906, 085906/Z/08/Z, 090532
Sequence-based characterization of structural variation in the mouse genome.
The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK.
Structural variation is widespread in mammalian genomes and is an important cause of disease, but just how abundant and important structural variants (SVs) are in shaping phenotypic variation remains unclear. Without knowing how many SVs there are, and how they arise, it is difficult to discover what they do. Combining experimental with automated analyses, we identified 711,920 SVs at 281,243 sites in the genomes of thirteen classical and four wild-derived inbred mouse strains. The majority of SVs are less than 1 kilobase in size and 98% are deletions or insertions. The breakpoints of 160,000 SVs were mapped to base pair resolution, allowing us to infer that insertion of retrotransposons causes more than half of SVs. Yet, despite their prevalence, SVs are less likely than other sequence variants to cause gene expression or quantitative phenotypic variation. We identified 24 SVs that disrupt coding exons, acting as rare variants of large effect on gene function. One-third of the genes so affected have immunological functions.
Funded by: Cancer Research UK: 13031; Medical Research Council: G0800024, MC_U137761446; Wellcome Trust: 079912, 082356, 090532, 098051