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An accurate and precisely annotated genome assembly is a fundamental requirement for functional genomic analysis. Here, the complete DNA sequence and gene annotation of mouse Chromosome 11 was used to test the efficacy of large-scale sequencing for mutation identification. We re-sequenced the 14,000 annotated exons and boundaries from over 900 genes in 41 recessive mutant mouse lines that were isolated in an N-ethyl-N-nitrosourea (ENU) mutation screen targeted to mouse Chromosome 11. Fifty-nine sequence variants were identified in 55 genes from 31 mutant lines. 39% of the lesions lie in coding sequences and create primarily missense mutations. The other 61% lie in noncoding regions, many of them in highly conserved sequences. A lesion in the perinatal lethal line l11Jus13 alters a consensus splice site of nucleoredoxin (Nxn), inserting 10 amino acids into the resulting protein. We conclude that point mutations can be accurately and sensitively recovered by large-scale sequencing, and that conserved noncoding regions should be included for disease mutation identification. Only seven of the candidate genes we report have been previously targeted by mutation in mice or rats, showing that despite ongoing efforts to functionally annotate genes in the mammalian genome, an enormous gap remains between phenotype and function. Our data show that the classical positional mapping approach of disease mutation identification can be extended to large target regions using high-throughput sequencing.
Pubmed ID: 20011118 RIS Download
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Collection of genome databases for vertebrates and other eukaryotic species with DNA and protein sequence search capabilities. Used to automatically annotate genome, integrate this annotation with other available biological data and make data publicly available via web. Ensembl tools include BLAST, BLAT, BioMart and the Variant Effect Predictor (VEP) for all supported species.
View all literature mentionsTool used to design PCR primers from DNA sequence - often in high-throughput genomics applications. It does everything from mispriming libraries to sequence quality data to the generation of internal oligos.
View all literature mentionsWelcome to the Department of Genome Sciences, which began in September 2001 by the fusion of the Departments of Genetics and Molecular Biotechnology. Our goal is to address leading edge questions in biology and medicine by developing and applying genetic, genomic and computational approaches that take advantage of genomic information now available for humans, model organisms and a host of other species. Our faculty study a broad range of topics, including the genetics of E. coli, yeast, C. elegans, Drosophila, and mouse; human and medical genetics; mathematical, statistical and computer methods for analyzing genomes, and theoretical and evolutionary genetics; and genome-wide studies by such approaches as sequencing, transcriptional and translational analysis, polymorphism detection and identification of protein interactions. Our chair, Dr. Robert Waterston, joined the department in January 2003. Our department includes both faculty with primary appointments in Genome Sciences, as well as adjuncts in other departments and Seattle institutions. Nine faculty are members of the National Academy of Sciences, including 2001 Nobel Prize winner Dr. Lee Hartwell, who conducted much of his groundbreaking work in the Department of Genetics. Five training faculty are Howard Hughes Medical Institute Investigators. Graduate research in the Department leads to a Ph.D. in Genome Sciences and students may also choose to participate in the Computational Molecular Biology or Molecular Medicine programs. Our department has around 55 - 60 graduate students at any given time and has moved into the new William H. Foege Building.
View all literature mentionsFTP site to access Schizosaccharomyces pombe protein data.
View all literature mentionsWeb tool to predict biological targets of miRNAs by searching for presence of conserved 8mer, 7mer and 6mer sites that match seed region of each miRNA. Nonconserved sites are also predicted and sites with mismatches in seed region that are compensated by conserved 3' pairing. Used to search for predicted microRNA targets in mammals.
View all literature mentionsSoftware tool that screens DNA sequences for interspersed repeats and low complexity DNA sequences. The output of the program is a detailed annotation of the repeats that are present in the query sequence as well as a modified version of the query sequence in which all the annotated repeats have been masked (default: replaced by Ns). Currently over 56% of human genomic sequence is identified and masked by the program. Sequence comparisons in RepeatMasker are performed by one of several popular search engines including nhmmer, cross_match, ABBlast/WUBlast, RMBlast and Decypher. RepeatMasker makes use of curated libraries of repeats and currently supports Dfam ( profile HMM library ) and RepBase ( consensus sequence library ).
View all literature mentionsSoftware for Next-Generation DNA sequencing, Sanger DNA analysis, and RNA sequencing. It contains sequence analysis tools which include reference-guided alignments, de novo assembly, variant calling, and SNP analyses. It has integrated the Cufflinks suite for in-depth transcript analysis and differential gene expression of RNA-Seq data.
View all literature mentionsA free and open-source add-on for conducting meta-analyses with the statistical software environment R.
View all literature mentionslaboratory mouse with name 129/SvEv from MGI.
View all literature mentionslaboratory mouse with name C57BL/6N from MGI.
View all literature mentionslaboratory mouse with name 129S6/SvEvTac from MGI.
View all literature mentionsMus musculus with name C57BL/6J from IMSR.
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