Download At the Bench: A Laboratory Navigator by Kathy Barker PDF

By Kathy Barker

A instruction manual for dwelling and dealing within the laboratory. It discusses: how examine teams paintings on a human point - and the way to slot in; what gear is vital, and the way to take advantage of it effectively; find out how to start and get geared up; easy methods to arrange an test; tips on how to deal with and use information and reference resources; and the way to give your self and your effects - in print and in individual. It bargains suggestion, ethical aid, social etiquette, coverage, in addition to step by step directions for these uncomplicated laboratory methods that skilled investigators understand - yet rookies don't.

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J Exp Med. 1944;79:137–58. 2. Watson JD, Crick FH. Molecular structure of nucleic acids; a structure for deoxyribose nucleic acid. Nature. 1953;171:737–8. 3. Vogelstein B, Kinzler KW. The multistep nature of cancer. Trends Genet. 1993;9:138–41. 4. Shaffer LG, McGowan-Jordan J, Schmid M, editors. An international system for human cytogenetic nomenclature. Basel: S Karger; 2013. 5. Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, et al. Initial sequencing and analysis of the human genome.

Despite the large amounts of genetic data that have been generated, many genetic variants are not clearly benign (polymorphism) or disease causing (mutation). There are still a large number of alterations for which the clinical significance is unknown. For example, the hereditary breast and ovarian cancer genes, BRCA1 and BRCA2, were discovered approximately 20 years ago, and clinical testing for germline alterations has been available for over 10 years, yet approximately 1 in 10 to 1 in 20 women who undergo genetic testing of BRCA1 and BRCA2 receive a result of “variant of unknown significance” [14].

The nucleic acid change may (1) result in no change to the amino acid sequence of a protein (silent), (2) result in a change to the amino acid sequence of the protein (missense), or (3) result in the formation of a stop codon, which prematurely terminates protein production (nonsense). Silent alterations are unlikely to have a phenotypic effect. Nonsense mutations often result in a nonfunctional protein due to the fact that the protein production is terminated early resulting in a truncated protein.

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