New, free Web-based software described in the journal Bioinformatics analyzes DNA sequences to determine if mutations are likely to cause errors in splicing of messenger RNA. When gene splicing goes awry, a wide variety of diseases can result.
PROVIDENCE, R.I. [Brown University] — In a brief paper in the journal Bioinformatics, Brown University 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.
“Spliceman takes a set of DNA sequences with point mutations and computes how likely these single nucleotide variants alter splicing phenotypes,” write co-authors Kian Huat Lim, a graduate student, and William Fairbrother, assistant professor of biology, in an “application note” published in advance online Feb. 10. It will appear in print in April. (more…)