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On 8th-10th of September 2017 in Grand Hotel Plovdiv was held 12th Balkan Congress of Human Genetics and 8th National Conference for Rare Diseases. The newest achievements in the field of dysmorphology, reproductive, prenatal, cancer and neurogenetics, also innovations and trends in personalized and genomic medicine were represented. Highlights also included the current development in technologies and their application in daily medicine. Book of presentations and posters can be downloaded here.