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New genomics technique can be used to track down the causes of rare genetic diseases

October 11, 2019

A team led by a scientist at Scripps Research has invented a new genomics technique for tracking down the causes of rare genetic diseases.

The technique, which the researchers report in Science, 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.

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