US software represents leap forward in identifying disease genes

30 May 2014

Scientists in the US have developed software that helps researchers and clinicians identify disease-causing mutations in families faster and more precisely than ever before.

pVAAST (the pedigree Variant Annotation, Analysis and Search Tool) combines linkage analysis with case control association and helped identify mutations in two families with separate diseases and a new variation in a 12-year-old who was the only one in his family to suffer from a life-threatening intestinal problem.

"Linkage analysis and case control association traditionally have been used to find gene mutations," says Chad Huff, PhD, corresponding author on the study and assistant professor of epidemiology at the MD Anderson Cancer Centre in Houston. "Bringing those methods together provides a strong increase in the power to find gene variations that cause disease."

By identifying gene variations that family members share, it's possible to identify mutations in a gene that causes the disease, reports Science Daily.

"The issue with whole genome sequences has been that sequencing one person's genome to find a single disease-causing gene is difficult," says Mark Yandell, PhD, professor of human genetics at the University of Utah and a senior author on the paper. "If you can sequence the whole family it gives a fuller picture of the sequence and variations potentially involved in disease."

A big advantage of pVAAST, according to Huff and Yandell, is its ability to simultaneously search multiple families with the same disease to find mutations, thus reducing the amount of time and effort to find a disease-causing variant.

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