developmental disorder BGI Fosters Adoption of Stereo-Seq Spatial Transcriptomics Technology Premium In four separate studies published this week, researchers showcased the technology by constructing spatiotemporal transcriptomic maps of several model organisms. Invitae Aims to Aid 'Diagnostic Odyssey' With New Neurodevelopmental Genetic Test Suite Premium The package comprises a battery of genetic tests to detect an array of developmental delays, intellectual disabilities, and autism spectrum disorders. Sequencing Study Points to Prenatal Development Syndrome, Possible Treatment Strategy With the help of sequencing, researchers identified several families affected by Zaki syndrome, caused by potentially targetable mutations affecting Wnt signaling. 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. Autism Sharing Initiative Brings Federated Data Model to Research, Clinical Care Premium DNAstack, Autism Speaks, and a Canadian-led coalition of hospitals, pharma companies, and patient advocates are turning to big data and GA4GH standards to raise understanding of autism. Nov 18, 2020 CNV Analyses May Uncover Mendelian Conditions in Undiagnosed Pediatric Patients Oct 19, 2020 Congenital Hydrocephalus Exome Study Reveals Mutations in Early Brain Development Genes Oct 14, 2020 Developmental Disorder Study Identifies 28 Novel Disease Genes Oct 7, 2020 Prenatal Diagnosis Society Recommends cfDNA Screening for Autosomal Trisomies in Twin Pregnancies Aug 24, 2020 Bionano Genomics Acquires Diagnostic Services Provider Lineagen for $9.6M Aug 7, 2020 Researchers Use CRISPR-Cas13 Platform to Interrogate Gene Function in Animal Embryos Feb 11, 2020 Oxford Gene Technology Expands NGS Offering Into Constitutional Cytogenetics Premium Jan 31, 2020 Copy Number Variants May Influence Clinical Presentation Among Individuals with PTEN Mutations Oct 11, 2019 Developmental Disorder Study Uncovers Cases Marked by Mobile Genetic Element Insertions May 16, 2019 Phenotypic Evaluation Helps Uncover Gene Variant Linked to Childhood Epilepsy May 7, 2019 Gene Panel Analysis Refines Risky Genes in Neurodevelopmental Disorder Cases Marked by Epilepsy Apr 18, 2019 Pancreatic, Brain Development Gene Found From Patient Exomes Apr 11, 2019 Hirschsprung's Disease Genetic Analysis Reveals Mix of Common, Rare Risk Variants Apr 1, 2019 First Epigenetic Signature Test for Inherited Disorders to Launch in the US, Europe Premium Jan 24, 2019 Lineagen Hopes Telehealth Partnership Will Expedite Return of Autism Test Results Premium Jan 17, 2019 UK Biobank Dataset Helps Elucidate Pathogenicity of Rare Genetic Variants Jan 10, 2019 Lineagen Taps PWNHealth to Increase Consumer Access to Genetic Tests Dec 17, 2018 Autism, Developmental Delay Gene Candidates Compiled From De Novo Variant, CNV Data Dec 10, 2018 Developmental Disorder, Other Disease Genes Revealed by Mapping Regions Resistant to Change Nov 8, 2018 Some Developmental Disorders Caused by Recessive Coding Variants Load More Breaking News Single-Nucleus Chromatin Accessibility Profiling in Coronary Artery Disease Points to Mechanisms ALL Genomes Marked by High DNA Methylation Levels Cepheid Gets CE Mark for Updated Rapid COVID MDx Test Mainz Biomed, Dante Labs Partner to Commercialize ColoAlert in Europe, UAE CellCarta Acquires Rights to Targeted Protein Assays from Fred Hutch Spinout Precision Assays Genetic Analysis, Omnigene Medical Technologies Ink Distribution, Tech Transfer Deal The Scan Monkeypox Case Found in US The New York Times says that a case of monkeypox has now been reported in the US. Effects on Fetal Screening Wired writes that changes to US abortion laws could affect screening for fatal congenital conditions. 'Pharma Bro' Out of Prison The Wall Street Journal reports that Martin Shkreli has been released from prison to a halfway house. Nature Papers Present Cultivate Oat Genome, Benchmarking of Spatial and Single-Cell Transcriptomic Integration Methods In Nature this week: reference genome of the cultivated oat, and more.