Diagnosis

NEWS For more information: Cathy Yarbrough press@ashg.org 858-243-1814 Embargo: 10:30 a.m. PT, Thursday, Nov. 8, 2012 Research findings confirming that de novo mutations represent a major cause of previously unexplained intellectual disability were presented today (Nov. 8) at the American Society of Human Genetics 2012 meeting in San Francisco. Josep de Ligt, M.Sc., bioinformatician and... Read More

NEWS For more information: Cathy Yarbrough press@ashg.org 858-243-1814 Embargo: 10:30 a.m. PT, Thursday, Nov. 8, 2012 Next generation sequencing of the exome, the 1 to 2% of the DNA containing the genes that code for proteins, enabled the identification of the likely genetic causes of unexplained forms of intellectual disability in over 30% of a... Read More

ASHG and the American College of Medical Genetics issued a 2000 statement describing tandem mass spectrometry and its potential role in newborn screening programs. The statement describes the state of the science as well as questions to be considered in its implementation, including funding and training. Related: Statement on Tandem Mass Spectrometry in Newborn Screening... Read More