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Free Program Predicts How Troublesome a Genetic Mutation Is
smoothjazz writes "Researchers describe a new, freely available Web-based program called Spliceman for predicting whether genetic mutations are likely to disrupt the splicing of messenger RNA, potentially leading to disease. From the article: 'Spliceman makes its predictions about mutations by calculating that distance. It has successfully predicted the known effect of many mutations.
The software has genomic information about 11 species: humans, chimpanzees, rhesus monkeys, mice, rats, dogs, cats, chickens, guinea pigs, frogs, and zebra fish.'"
This app is part of the sex education class in Arkansas!
Free Program Predicts How Troublesome a Genetic Mutation Is
No it doesn't.
This is yet another case of how stupid PR does damage to otherwise good science. The original paper (not the PR release) describes a statistical model. The model tells you how likely it is for a mutation to affect splicing. According to ROC curve on figure 4 it isn't nearly as selective or sensitive as you need it to be for any clinical application. It is however a great research tool. The PR article makes another false assumption, by stating that mutations affecting the splicing of an exon invariably cause 'trouble'. In fact it is well established that there is a significant variability in exon usage in perfectly healthy humans (citations below).
1. Kwan, Tony, David Benovoy, Christel Dias, Scott Gurd, David Serre, Harry Zuzan, Tyson A. Clark, et al. “Heritability of Alternative Splicing in the Human Genome.” Genome Res. 17, no. 8 (August 1, 2007): 1210–1218.
2. Zhang, Wei, Shiwei Duan, Emily O. Kistner, Wasim K. Bleibel, R. Stephanie Huang, Tyson A. Clark, Tina X. Chen, et al. “Evaluation of Genetic Variation Contributing to Differences in Gene Expression Between Populations.” The American Journal of Human Genetics 82, no. 3 (March 3, 2008): 631–640.