BMC医学遗传学是一份开放获取的期刊，发表原创的同行评审的研究文章，研究个体、家庭和人群之间的遗传变异对人类健康和疾病的影响。
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.