caa a22 4500 475786947 CHVBK 20180406123701.0 cr unu---uuuuu 170329e20001201xx s 000 0 eng 10.1007/PL00014396 doi (NATIONALLICENCE)springer-10.1007/PL00014396 Cotton Richard G. Mutation Research Centre, 7th Floor Daly Wing, 41 Victoria Parade, Fitzroy Victoria 3065, Australia e-mail: cotton@ariel.ucs.unimelb.edu.au Tel.: +61-3-92882980; Fax: +61-3-92882989, AU aut Methods in clinical molecular genetics [Elektronische Daten] [Richard G. Cotton] Mutation detection is fundamental throughout biology, but especially so in medicine and medical research, particularly in gene discovery and cancer diagnostics. Current methods are unsatisfactory due to a range of reasons, but particularly due to cost and lack of convenience. The current methods are reviewed and their advantages and disadvantages discussed. The high profile chip technology whilst making an enormous impact in expression studies is more problematic for mutation detection, especially for unknown mutations and the problems are discussed. Finally, once mutations are discovered they need documenting accurately and the efforts of the Human Genome Organisation mutation database initiative due this direction are discussed. Conclusion Current methods of mutation analysis, although unsatisfactory, are reviewed and the impact of new technologies assessed. Springer-Verlag Berlin Heidelberg, 2000 Key words Chip technology nationallicence Mutation databases nationallicence Mutation detection nationallicence Scanning nationallicence https://doi.org/10.1007/PL00014396 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/PL00014396 text/html Onlinezugriff via DOI NATIONALLICENCE 100 1- Cotton Richard G. Mutation Research Centre, 7th Floor Daly Wing, 41 Victoria Parade, Fitzroy Victoria 3065, Australia e-mail: cotton@ariel.ucs.unimelb.edu.au Tel.: +61-3-92882980; Fax: +61-3-92882989, AU aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer