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When applying WGS to study the molecular epidemiology of bacterial pathogens, genomic variability between strains is translated into measures of distance by determining single nucleotide polymorphisms in core genome alignments or by indexing allelic variation in hundreds to thousands of core genes, assigning types to unique allelic profiles. The chance of mismapping increases and the number of mapped bases decreases if a diverse set of samples is … In cases where single nucleotide polymorphism or core gene typing do not provide the resolution necessary for accurate assessment of the epidemiology of bacterial pathogens, inclusion of accessory gene or plasmid sequences may provide the additional required discrimination.This minireview describes methodologic approaches that have been explored for WGS-based epidemiologic analysis and considers the challenges and pitfalls of data interpretation.Personal collection of relevant publications.Whole genome sequence (WGS)-based strain typing finds increasing use in the epidemiologic analysis of bacterial pathogens in both public health as well as more localized infection control settings.As with all epidemiologic analysis, realizing the full potential of the revolutionary advances in WGS-based approaches requires understanding and dealing with issues related to the fundamental steps of data generation and interpretation.ScienceDirect ® is a registered trademark of Elsevier B.V. In 2007, Science magazine announced human genetic variation as the breakthrough of the year and in 2008, at the age of 39, Dr. Lee became the youngest recipient of the Ho-Am Prize in Medicine (also referred to as the "Korean Nobel Prize") for his pioneering work in this field.Genetic variation—differences in both the coding and noncoding portions of our DNA—is what makes each human being a unique individual. Posted on February 10, 2014 by Roberta Estes. Large-scale mutations occur due to deletions of larger areas, reproduction of number variations, deletion of genes, loss of gene copies, and movement of larger sections of DNA from the original position, etc. Dr. Blakemore completed both her undergraduate and graduate training at the University of Sheffield in the United Kingdom, obtaining her Ph.D. in the Department of Molecular Biology and Biotechnology in 1990. But these small changes are not the whole picture. Speakers. Mutations will result in the alteration of the gene structure that expresses wrong proteins. Summary – SNP vs Mutation. One of the questions I receive rather regularly is about the difference between STRs and SNPs. These are the changes caused due to mistakes of DNA replication or the influence of the different environmental factors. Dr. Blakemore is currently Senior Lecturer in Human Molecular Genetics and Chair of the Metabolic and Endocrine Technology Network at Imperial College London and is a member of the Council of the British Society for Human Genetics.In this webinar, our panelists will:For more information on upcoming webinars, recorded sessions and more, sign up for webinar alerts.After obtaining a masters degree in Molecular Biology at Gothenburg University in Sweden, Dr Feuk went on to complete his Ph.D. in functional genomics at the Center for Genomics and Bioinformatics at the Karolinska Institute in Stockholm, Sweden. Small-scale mutations occur due to deletions, insertions, duplications, single nucleotide differences, inversions, etc. It also can determine our unique susceptibility to disease. Since 2004, Dr Feuk has also been curator of the Database of Genomic Variants, the most widely used database for information on structural genetic variation. With the inclusion of thousands to millions of probes, it allows the detection of small copy number variations (CNVs) of a few kb. A mutation is defined as any change occurred in a DNA sequence comparatively to the normal DNA sequence. A single-nucleotide polymorphism is a substitution of a single nucleotide at a specific position in the genome, that is present in a sufficiently large fraction of the population (e.g.