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Aims and Scope

We are particularly interested in promoting the translation of basic research into clinical practice. Coverage however also extends to other basic and clinical studies related to human genetics including molecular and clinical genetics, biochemistry, pharmaceutical sciences, pharmacogenomics, molecular biology, pharmacology and oncology. Articles of clinical interest and with clinical implications for the treatment of patients will be given preference. 

    Articles in the following themes are welcome, but not limited to:
  • Single gene disorders, rare genetic disease, specific genetic syndromes, complex disease;
  • Preventive genomics and the realization of personalized health-risk assessments;
  • Bioinformatics in genetic medicine and genomics;
  • Application of genetics to stem cells and pluripotent stem cells;
  • Application of next-generation sequencing in clinical practice;
  • Application of genetics in precision medicine;
  • Application of genetics to unlocking disease mechanisms, management and target discovery;
  • Utilization of genomics data for disease risk prediction and molecular classification;
  • Gene-environment interactions;
  • Genetic counseling;
  • Integration of genomics with other "omics" platforms.