BMC醫學遺傳學是一份開放獲取的期刊，發表原創的同行評審的研究文章，研究個體、家庭和人群之間的遺傳變異對人類健康和疾病的影響。

BMC Medical Genetics is an open access journal publishing original peer-reviewed research articles in the effects of genetic variation in individuals, families and among populations in relation to human health and disease.