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 ...

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

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 ...

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 ...

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

The results of the study have now been published in the renowned journal American Journal of Human Genetics. Families with ...

The findings were published in the American Journal of Human Genetics. Steven Micheletti, a population geneticist at 23andMe told AFP news agency that the aim was to compare the genetic results ...

In a groundbreaking study, researchers at McMaster University have identified a potential treatment for Sandhoff and Tay-Sachs diseases—two rare, often fatal lysosomal storage disorders that cause ...