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Initial sequencing and analysis of the human genome.
The results of an international collaboration to produce and make freely available a draft sequence of the human genome are reported and an initial analysis is presented, describing some of the insights that can be gleaned from the sequence.
SMART, a simple modular architecture research tool: identification of signaling domains.
- J. Schultz, F. Milpetz, P. Bork, C. Ponting
- BiologyProceedings of the National Academy of Sciences…
- 26 May 1998
Accurate multiple alignments of 86 domains that occur in signaling proteins have been constructed and used to provide a Web-based tool that allows rapid identification and annotation of signaling domain sequences, showing that at least 6.7% of yeast genes contain one or more signaling domains, approximately 350 greater than previously annotated.
Regulation of chromatin structure by site-specific histone H3 methyltransferases
A functional interdependence of site-specific H3 tail modifications is revealed and a dynamic mechanism for the regulation of higher-order chromatin is suggested.
Genome sequence, comparative analysis and haplotype structure of the domestic dog
A high-quality draft genome sequence of the domestic dog is reported, together with a dense map of single nucleotide polymorphisms (SNPs) across breeds, to shed light on the structure and evolution of genomes and genes.
Initial sequencing and comparative analysis of the mouse genome.
The results of an international collaboration to produce a high-quality draft sequence of the mouse genome are reported and an initial comparative analysis of the Mouse and human genomes is presented, describing some of the insights that can be gleaned from the two sequences.
Mouse genomic variation and its effect on phenotypes and gene regulation
These sequences provide a starting point for a new era in the functional analysis of a key model organism and show that the molecular nature of functional variants and their position relative to genes vary according to the effect size of the locus.
SMART: a web-based tool for the study of genetically mobile domains
- J. Schultz, R. Copley, T. Doerks, C. Ponting, P. Bork
- Computer Science, BiologyNucleic Acids Res.
SMART (a Simple Modular Architecture Research Tool) allows the identification and annotation of genetically mobile domains and the analysis of domain architectures (http://SMART.embl-heidelberg.de ).…
SMART 4.0: towards genomic data integration
Improvements in SMART are centred on the integration of data from completed metazoan genomes, and the ability to query SMART by Gene Ontology terms, improved structure database searching and batch retrieval of multiple entries.
Functional impact of global rare copy number variation in autism spectrum disorders
The genome-wide characteristics of rare (<1% frequency) copy number variation in ASD are analysed using dense genotyping arrays to reveal many new genetic and functional targets in ASD that may lead to final connected pathways.