Diversity of ATM gene variants: a population-based genome data analysis for precision medicine.
Hisanori FukunagaYasuyuki TakiKevin M PrisePublished in: Human genomics (2019)
The combination of population-based biobanking and human genomics provided a novel insight of diversity of ATM gene variants at a population level. For the advancement of precision medicine, such approach will be useful to predict novel pathogenic/likely pathogenic variants in the ATM gene and to establish preventive medical guidelines for certain ATM heterozygotes pertaining to their risk of particular diseases.