For the new technology, the researchers, including those from Scripps Research Institute in the US, applied the fact that each person inherited two copies of every gene, or alleles one from the mother and another from the father.

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In the new method, described in the journal Science, the researchers detected the activity levels of maternal and paternal alleles across the genome to determine when the activity of an allele was outside the normal range to be a plausible cause of disease.



"Adding this method to our toolkit should allow us to detect the causes of rare genetic diseases for some of the cases in which standard methods fail," said study first author Pejman Mohammadi from Scripps Research Institute. The study noted that comparing the activity of maternal and paternal alleles was a more sensitive method than comparing one person's gene activity to another's.


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