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Biomedical subjects

M Clamp

Publications and source records attributed to M Clamp.

9 recordsLinked to original sources

Ensembl 2002: accommodating comparative genomics.

The Ensembl (http://www.ensembl.org/) database project provides a bioinformatics framework to organise biology around the sequences of large genomes. It is a comprehensive source of stable automatic annotation of human, mouse and other genome sequences, available as either an interactive web site or as flat files. Ensembl also integrates manually annotated gene structures from external sources where available. As well as being one of the leading sources of genome annotation, Ensembl is an open source software engineering project to develop a portable system able to handle very large genomes and associated requirements. These range from sequence analysis to data storage and visualisation and installations exist around the world in both companies and at academic sites. With both human and mouse genome sequences available and more vertebrate sequences to follow, many of the recent developments in Ensembl have focusing on developing automatic comparative genome analysis and visualisation.

Animals↗

The Ensembl genome database project.

The Ensembl (http://www.ensembl.org/) database project provides a bioinformatics framework to organise biology around the sequences of large genomes. It is a comprehensive source of stable automatic annotation of the human genome sequence, with confirmed gene predictions that have been integrated with external data sources, and is available as either an interactive web site or as flat files. It is also an open source software engineering project to develop a portable system able to handle very large genomes and associated requirements from sequence analysis to data storage and visualisation. The Ensembl site is one of the leading sources of human genome sequence annotation and provided much of the analysis for publication by the international human genome project of the draft genome. The Ensembl system is being installed around the world in both companies and academic sites on machines ranging from supercomputers to laptops.

Computational Biology↗

The DNA sequence of human chromosome 22.

Knowledge of the complete genomic DNA sequence of an organism allows a systematic approach to defining its genetic components. The genomic sequence provides access to the complete structures of all genes, including those without known function, their control elements, and, by inference, the proteins they encode, as well as all other biologically important sequences. Furthermore, the sequence is a rich and permanent source of information for the design of further biological studies of the organism and for the study of evolution through cross-species sequence comparison. The power of this approach has been amply demonstrated by the determination of the sequences of a number of microbial and model organisms. The next step is to obtain the complete sequence of the entire human genome. Here we report the sequence of the euchromatic part of human chromosome 22. The sequence obtained consists of 12 contiguous segments spanning 33.4 megabases, contains at least 545 genes and 134 pseudogenes, and provides the first view of the complex chromosomal landscapes that will be found in the rest of the genome.

Animals↗

A randomised controlled trial of general practitioner safety advice for families with children under 5 years.

OBJECTIVE: To assess effectiveness of general practitioner advice about child safety, and provision of low cost safety equipment to low income families, on use of safety equipment and safe practices at home. DESIGN: Randomised, unblinded, controlled trial with initial assessment and six week follow up by telephone survey. Twenty families from intervention and control groups were randomly selected for a home visit to assess validity of responses to second survey. SETTING: A general practice in Nottingham. SUBJECTS: 98% (165/169) of families with children aged under 5 years registered with the practice. INTERVENTIONS: General practitioner safety advice plus, for families receiving means tested state benefits, access to safety equipment at low cost. Control families received usual care. MAIN OUTCOME MEASURES: Possession and use of safety equipment and safe practices at home. RESULTS: Before intervention, the two groups differed only in possession of fireguards. After intervention, significantly more families in intervention group used fireguards (relative risk 1.89, 95% confidence interval 1.18 to 2.94), smoke alarms (1.14, 1.04 to 1.25), socket covers (1.27, 1.10 to 1.48), locks on cupboards for storing cleaning materials (1.38, 1.02 to 1.88), and door slam devices (3.60, 2.17 to 5.97). Also, significantly more families in intervention group showed very safe practice in storage of sharp objects (1.98, 1.38 to 2.83), storage of medicines (1.15, 1.03 to 1.28), window safety (1.30, 1.06 to 1.58), fireplace safety (1.84, 1.34 to 2.54), socket safety (1.77, 1.37 to 2.28), smoke alarm safety (1.11, 1.01 to 1.22), and door slam safety (7.00, 3.15 to 15.6). Stratifying results by receipt of state benefits showed that intervention was at least as effective in families receiving benefits as others. CONCLUSIONS: General practitioner advice, coupled with access to low cost equipment for low income families, increased use of safety equipment and other safe practices. These findings are encouraging for provision of injury prevention in primary care.

Accidents, Home↗

Comparative trial of nifedipine retard and atenolol in the treatment of elderly patients with mild to moderate hypertension.

Forty-one elderly patients with mild to moderate hypertension (resting diastolic blood pressure 100-130 mmHg after an eight week placebo run-in phase) were randomised to a double-blind parallel group comparison of nifedipine retard 10 mg twice daily or atenolol 50 mg once daily. If the resting diastolic pressure exceeded 95 mmHg after four weeks of treatment the dose(s) were doubled for a further four weeks. Initial sitting blood pressures were 187 +/- 21/105 +/- 5 mmHg in the nifedipine group and 181 +/- 19/106 +/- 6 in the atenolol group. At four weeks, eight patients given nifedipine and nine given atenolol had their doses doubled. At eight weeks sitting blood pressures were 159 +/- 19/85 +/- 7 and 162 +/- 21/87 +/- 8 respectively, with 18/20 patients given nifedipine and 16/21 given atenolol having a sitting diastolic pressure equal to or less than 95 mmHg. One patient given nifedipine was withdrawn because of unacceptable ankle oedema and one given atenolol withdrawn because of worsening angina. Both drugs were equally acceptable to the patients and neither caused a change in their sense of well-being.

Aged↗

Can audit improve patient care? Effects of studying use of digoxin in general practice.

A survey of monitoring of digoxin treatment in five practices examined the indications for prescribing digoxin, its long term use, and how its use could be monitored. These data were used to generate a protocol for monitoring treatment with digoxin in general practice. The findings of the survey and the protocol were distributed to and discussed with all the partners in the practices participating in the study. One year later similar analysis showed that record keeping (recording of pulse rate and rhythm) had improved significantly in the group of principals carrying out the audit but not in other principals in these practices. Audit may change only the auditors.

Adolescent↗

The DNA sequence and comparative analysis of human chromosome 20.

The finished sequence of human chromosome 20 comprises 59,187,298 base pairs (bp) and represents 99.4% of the euchromatic DNA. A single contig of 26 megabases (Mb) spans the entire short arm, and five contigs separated by gaps totalling 320 kb span the long arm of this metacentric chromosome. An additional 234,339 bp of sequence has been determined within the pericentromeric region of the long arm. We annotated 727 genes and 168 pseudogenes in the sequence. About 64% of these genes have a 5' and a 3' untranslated region and a complete open reading frame. Comparative analysis of the sequence of chromosome 20 to whole-genome shotgun-sequence data of two other vertebrates, the mouse Mus musculus and the puffer fish Tetraodon nigroviridis, provides an independent measure of the efficiency of gene annotation, and indicates that this analysis may account for more than 95% of all coding exons and almost all genes.

Animals↗