Clinical Genetics

期刊简介：Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice.Topics of particular interest are:• Linking genetic variations to disease• Genome rearrangements and disease• Epigenetics and disease• The translation of genotype to phenotype• Genetics of complex disease• Management/intervention of genetic diseases• Novel therapies for genetic diseases• Developmental biology, as it relates to clinical genetics• Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease

【译文】临床遗传学将研究与临床实践相结合，将我们对遗传疾病分子基础的理解的进步转化为临床遗传学家的实践。该期刊发表高质量的研究论文、简报、综述和迷你综述，将医学遗传学研究与临床实践联系起来。特别感兴趣的主题包括：• 将遗传变异与疾病联系起来• 基因重排与疾病• 表观遗传学与疾病• 基因型到表型的转化• 复杂疾病的遗传学• 遗传疾病的处理/干预• 遗传疾病的创新疗法• 与临床遗传学相关的发育生物学• 关于遗传疾病生活或处于遗传疾病风险中的心理和行为方面的社会科学研究