Τρίτη 17 Μαΐου 2016

Genetic screens: Finding the resilient few

Nature Reviews Genetics 17, 316 (2016). doi:10.1038/nrg.2016.54

Author: Denise Waldron

Researchers of a study published in Nature Biotechnology have identified 13 healthy individuals who harbour genetic variants associated with severe Mendelian diseases that were previously thought to be completely penetrant.Studies of disease genetics are generally focused on the identification of disease-causing variants in



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