The Journal of Human Genetics is an international journal publishing articles on human genetics, including medical genetics and human genome analysis. It covers all aspects of human genetics ...

从基因组角度考虑，儿童ASD是一组具有高度基因型/表型异质性的疾患，5%-30%的受累个体具有孟德尔疾病。随着基因组技术的进步，对自闭症队列进行的大规模测序研究已确定了300多个ASD风险基因，其中包括100个高可信度基因。大多数与ASD相关的基因对 ...

The Journal of Human Genetics is an international journal publishing articles on human genetics, including medical genetics and human genome analysis. It covers all aspects of human genetics ...

In a new study, researchers at McMaster University have identified a potential treatment for Sandhoff and Tay-Sachs ...

Research scientist Yosuke Tanigawa and Professor Manolis Kellis at MIT Computer Science and Artificial Intelligence ...

This journal utilises an Online Peer Review Service (OPRS) for submissions. By clicking "Continue" you will be taken to our partner site https://mc.manuscriptcentral ...

This journal utilises an Online Peer Review Service (OPRS) for submissions. By clicking "Continue" you will be taken to our partner site https://mc.manuscriptcentral ...

ASHG 2024 president, Bruce Gelb, shares themes from the meeting and the science and technologies that will be highlighted.

Scientists believe individuals of the most recently discovered “hominin” group (the Denisovans) that interbred with modern day humans passed on some of their genes via multiple, distinct interbreeding ...