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Powerful new genomics method can be used to reveal the causes of rare genetic diseases

05:59 EDT 11 Oct 2019 | Science Daily

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.

Original Article: Powerful new genomics method can be used to reveal the causes of rare genetic diseases

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Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...