We have developed a computer based method to identify candidate single nucleotide polymorphisms (SNPs) and small insertions/deletions from expressed sequence tag data. Using a redundancy-based approach, valid SNPs are distinguished from erroneous sequence by their representation multiple times in an alignment of sequence reads. A second measure of validity was also calculated based on the cosegregation of the SNP pattern between multiple SNP loci in an alignment. The utility of this method was demonstrated by applying it to 102,551 maize (Zea mays) expressed sequence tag sequences. A total of 14,832 candidate polymorphisms were identified with an SNP redundancy score of two or greater. Segregation of these SNPs with haplotype indicates that candidate SNPs with high redundancy and cosegregation confidence scores are likely to represent true SNPs. This was confirmed by validation of 264 candidate SNPs from 27 loci, with a range of redundancy and cosegregation scores, in four inbred maize lines. The SNP transition/transversion ratio and insertion/deletion size frequencies correspond to those observed by direct sequencing methods of SNP discovery and suggest that the majority of predicted SNPs and insertion/deletions identified using this approach represent true genetic variation in maize.The development of high-throughput methods for the detection of single nucleotide polymorphisms (SNPs) and small indels (insertion/deletions) has led to a revolution in their use as molecular markers. SNPs are increasingly becoming the marker of choice in genetic analysis and are used routinely as markers in agricultural breeding programs (Gupta et al., 2001). They also have many uses in human genetics, such as for the detection of alleles associated with genetic diseases and the identification of individuals (Nikiforov et al., 1994). SNPs are invaluable as a tool for genome mapping, offering the potential for generating very high-density genetic maps, which can be used to develop haplotyping systems for genes or regions of interest (Rafalski, 2002). The low mutation rate of SNPs also makes them excellent markers for studying complex genetic traits and as a tool for the understanding of genome evolution (Syvanen, 2001).Unlike random amplified polymorphic DNAs and RFLPs, SNPs are direct markers because sequence information provides the exact nature of the allelic variants. They are far more prevalent than microsatellites and, therefore, may provide a high density of markers near a locus of interest. Recent evidence has shown that when comparing human DNA from two individuals, SNPs are found on average every 1 to 2 kb (Clifford et al., 2000;Deutsch et al., 2001). Limited work has been carried out to examine the occurrence of SNPs in plants, although these preliminary studies have indicated that SNPs appear to be even more abundant in plant systems than in the human genome. Germano and Klein (1999) identified five SNPs in 1 kb of nDNA of Picea rubens and Picea mariana, and also discovered SNPs in the chloroplasts of these species. Rec...
Professional values and behaviours are intrinsic to all medical practice, yet remain one of the most difficult subjects to integrate explicitly into a curriculum. Professionalism for the twenty-first century raises challenges not only to adapting the course to changing societal values but also for instilling skills of ongoing self-directed continuous development in trainees for future revalidation. This Guide is based on the contemporary available literature and focuses on instilling Professionalism positively into both undergraduate and postgraduate training deliberately avoiding the more negative aspects of Fitness to Practise. The literature on Professionalism is extensive. An evidence-based approach has been taken throughout. We have selected only some of the available publications to offer practical advice. Comprehensive reviews are available elsewhere (van Mook et al. 2009a-g). This Guide takes a structured stepwise approach and sequentially addresses: (i) agreeing an institutional definition, (ii) structuring the curriculum to integrate learning across all years, (iii) suggesting learning models, (iv) harnessing the impact of the formal, informal and hidden curricula and (v) assessing the learning. Finally, a few well-evaluated case studies for both teaching and assessment have been selected to illustrate our recommendations.
Emotional intelligence-based education may be able to contribute to the teaching of professionalism and communication skills in medicine, but further research is needed before its wholesale adoption in any curriculum can be recommended.
The use of simulated patients is beneficial in improving EI when introduced in interventions later rather than earlier in undergraduate medical education. Regardless of duration of intervention, interventions have the best effects when delivered: (1) over a short space of time; (2) to students later in their undergraduate education and; (3) to female students. This should be taken into account when designing and delivering interventions. Emphasising the importance of empathetic qualities, such as empathetic communication style should be made explicit during teaching.
This research highlights the issue of social networking websites and professionalism amongst medical students. Further guidance from the GMC and medical schools should remind students that images and information placed on social networking sites is in the public domain, and could impact upon their professional reputation and identity.
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