intellectual disability ACMG Recommends Sequencing as Test for Children With Intellectual Disability, Congenital Anomalies An American College of Medical Genetics and Genomics working group conducted a systematic review of the literature to develop its recommendation. First Epigenetic Signature Test for Inherited Disorders to Launch in the US, Europe Premium The clinical genome-wide DNA methylation test can diagnose genetic diseases that are missed by exome or genome sequencing and evaluate variants of unknown significance. Autism, Developmental Delay Gene Candidates Compiled From De Novo Variant, CNV Data Researchers found 253 candidate disease genes, based on 10,927 exomes from patients with autism spectrum disorder, developmental delay, or intellectual disability. Epigenetic Signatures Show Promise for Diagnosing Neurodevelopmental Disorders Premium In the long run, genome-wide DNA methylation profiling could be useful in diagnosing constitutional disorders as well as cancer. GeneDx, Radboud UMC Collaborate on Research Into Neurodevelopmental Disorders The partners are planning to conduct meta-analyses of shared exome datasets from patients with inherited neurological disorders. Jul 6, 2017 Single Gene Mutations Implicated in New Intellectual Disability Syndrome Feb 13, 2017 Analyses Narrow in on ASD, Neurodevelopment-Related De Novo Mutations Sep 22, 2016 Autism Data Shows Evidence of Human-Specific Regulatory Sequences Affecting Brain-Related Functions Aug 2, 2016 New De Novo Gene Mutations Implicated in Intellectual Disability Jul 19, 2016 Clinical Genomics Approach Offers Increased Diagnostic Yield for Intellectual Disability May 26, 2016 Exome Sequencing Prompts Treatment Changes for Neurometabolic Disorders in 44 Percent of Cases Feb 5, 2016 Dutch Study Finds Exome Sequencing Could Cut Costs for Dx in Children With Intellectual Disability Sep 3, 2015 Exome Sequencing Uncovers Monogenic Condition Marked By Speech Problems, Intellectual Delay Jun 10, 2015 Congenica Announces First Clinical Customer for Sapientia Platform Premium May 26, 2015 Estonian Population Profiling Reveals Recurrent, Rare CNVs Linked to Intellectual Ability Jun 25, 2014 Bioinn to Distribute Courtagen's NGS Tests in Taiwan Apr 29, 2014 Exome Sequencing Study Identifies Chromatin Remodeling-related Mutations in Schizophrenia Oct 4, 2012 Dutch Team IDs New Intellectual Disability Genes in Diagnostic Exome Sequencing Pilot Oct 3, 2012 Radboud University Aims to Expand Diagnostic Exome Sequencing to More Than 1,000 Patients Next Year Premium Oct 19, 2011 Dutch Study Aims to Demonstrate Cost-Effectiveness of Reimbursing for Exome Sequencing Dx Premium Jan 4, 2011 Next-Gen Sequencing Makes Inroads into Clinical Applications in 2010 Premium May 25, 2010 Emory Genetics Lab Launches Sequencing-Based Genetic Testing for Three Congenital Disorders Premium Mar 2, 2010 Athena Licenses Genetic Test for Intellectual Disability Breaking News Bio-Rad Laboratories Q2 Revenues Climb 33 Percent, Beat Estimates Veracyte Q2 Revenues More Than Double on Test Volume Spike Increased Testing Revenues Boost Opko Health Q2 Revenues 47 Percent Qiagen Q2 Revenues Grow 28 Percent CareDx Q2 Revenues Up 77 Percent Secondary Genetic Findings Often Requested if Given Second Chance, Study Finds The Scan Booster Push New data shows a decline in SARS-CoV-2 vaccine efficacy over time, which the New York Times says Pfizer is using to argue its case for a booster, even as the lower efficacy remains high. With Help from Mr. Fluffington, PurrhD Cats could make good study animals for genetic research, the University of Missouri's Leslie Lyons tells the Atlantic. Man Charged With Threatening to Harm Fauci, Collins The Hill reports that Thomas Patrick Connally, Jr., was charged with making threats against federal officials. Nature Papers Present Approach to Find Natural Products, Method to ID Cancer Driver Mutations, More In Nature this week: combination of cryogenic electron microscopy with genome mining helps uncover natural products, driver mutations in cancer, and more.