New Genomic Method for Diagnosis of Rare Genetic Diseases
A team of scientists has developed a new genomic method to detect the cause of rare genetic diseases . The method, called Analysis of expression Variation-Dosage Outlier Test, and abbreviated as ANEVA-DOT, makes use of gene transcription data to detect differences in the activity levels of maternal and paternal alleles of genes, which people acquire from their parents. It compares activity levels of maternal and paternal alleles across the genome and detects when the activity of an allele goes beyond the normal range to become a viable cause of a certain disease. Usually, many rare genetic diseases develop from DNA mutations that affect only a single allele of a gene. The method uses the calculation of a healthy range of differences in maternal allele and paternal allele activity for every gene from gene transcription data. Thus, it can be used to identify genes with abnormal expression levels in alleles. Typically, standard methods of sequencing genes and their transcripts are