Genetic Diseases More Severe with Adverse Coding, Regulatory Variant Combos

So-called disease genes may not cause disease, or particularly severe disease, in all who carry the genes. Why should some carriers of disease genes, which are typically protein-coding genes, be relatively spared, while other carriers should suffer the worse effects? To answer this question, scientists based at the New York Genome Center and Columbia University have delved into large genomic datasets to find an explanation for variable penetrance, that is, variability is the signs and symptoms o