The technique makes use of the fact that people inherit two copies or ”alleles” of virtually every gene, one from the mother and one from the father. The new method compares activity levels of maternal and paternal alleles across the genome and detects when the activity of an allele lies far enough outside the normal range to be a plausible cause of disease.
Click here for original story, Powerful new genomics method can be used to reveal the causes of rare genetic diseases
Source: ScienceDaily