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Multiomics Approach Improves Diagnosis of Rare Disease, Methylmalonic Aciduria

Genomic methods, specifically whole exome and whole genome sequencing, have been at the center of diagnosing rare, genetic diseases. For example, diagnosing the inborn errors of metabolism (IEM) disease, Methylmalonic aciduria (MMA), has relied largely on the detection of genomic…

Source: www.genengnews.comRead more

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