"The bigger the distance, the more likely that it affects splicing," Lim said.
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.
Fairbrother said he has already heard from colleagues and medical researchers who have been eager to integrate Spliceman into their efforts.
"I think it will mostly be used by medical geneticists seeking to understand the cause of disease," he said.
One use of the software, Fairbrother said, will be by a Harvard-based multidisciplinary team led by genetics researcher Shamil Sunyaev in this year's Children's Hospital Boston CLARITY challenge.
In the contest, competitors must discover the unknown genetic basis of rare disorders faced by three pediatric patients. Armed with the entire genome sequence of the patients and their parents, Spliceman will be used to interrogate discovered mutations and variants for their ability to disrupt splicing.
|Contact: David Orenstein|