developmental disorder 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. Genome Biology Papers on Regulatory Element, Single-Cell Integration, Sequence Simulation Tools In Genome Biology this week: algorithm to assess regulatory features, approach to integrate multiple single-cell RNA-seq datasets, and more. CNV Analyses May Uncover Mendelian Conditions in Undiagnosed Pediatric Patients Investigators diagnosed additional Mendelian conditions with copy number variant analyses on pediatric patients who remained undiagnosed after exome sequencing. 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 Oct 19, 2018 Epilepsy, Developmental Disorders Linked to De Novo Mutations in Calcium Channel Subunit Oct 11, 2018 Undiagnosed Diseases Network Reports Diagnostic Rates, Impact on Treatment Load More Breaking News SUPER Psychosis Study Presented at ASHG Digs Into Relationships of Rare Variants, Phenotypes People in the News: New Appointments at Myriad Genetics, Becton Dickinson, Delfi Diagnostics, More In Brief This Week: Virginia Commonwealth University, Dovetail Genomics, Lucid Diagnostics, and More New Products Posted to GenomeWeb: Bio-Rad, PerkinElmer, Ares Genetics, Purigen Biosystems, More Genetron Health, Fosun Ink Commercialization Deal for Seq-MRD Test in China MultiMuTHER Team Tracks Expression, Metabolite Relationships in Aging TwinsUK Participants The Scan More Boosters for US Following US Food and Drug Administration authorization, the Centers for Disease Control and Prevention has endorsed booster doses of the Moderna and Johnson & Johnson SARS-CoV-2 vaccines, the Washington Post writes. From a Pig A genetically modified pig kidney was transplanted into a human without triggering an immune response, Reuters reports. For Privacy's Sake Wired reports that more US states are passing genetic privacy laws. Science Paper on How Poaching Drove Evolution in African Elephants In Science this week: poaching has led to the rapid evolution of tuskless African elephants.