Understanding how mutations affect diseases

The human genetic code is fully mapped out, providing scientists with a blueprint of the DNA to identify genomic regions and their variations responsible for diseases. Traditional statistical tools effectively pinpoint these genetic “needles in the haystack,” yet they face challenges in understanding how many genes contribute to diseases, as seen in diabetes or schizophrenia. A new study from the Institute of Science and Technology Austria (ISTA), published in PNAS, tackles this problem.