developmental disorder 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. 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. Congenital Hydrocephalus Exome Study Reveals Mutations in Early Brain Development Genes Researchers uncovered rare, damaging mutations in genes involved in early brain development among 22 percent of 381 sporadic congenital hydrocephalus cases. Developmental Disorder Study Identifies 28 Novel Disease Genes The researchers said their analysis of healthcare and exome data identified 285 genes overall that were significantly associated with developmental disorders. Prenatal Diagnosis Society Recommends cfDNA Screening for Autosomal Trisomies in Twin Pregnancies The literature shows high specificity and sensitivity for cfDNA testing in twin pregnancies. It could also be a viable screening option for triplet 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 Oct 3, 2018 Congenica Taking Deliberate Approach to International Expansion Premium Sep 26, 2018 GWAS Reveals Common, Polygenic Contributors to Neurodevelopmental Disorders Load More Breaking News BTIG Initiates Coverage of Berkeley Lights With Buy Rating Quest Diagnostics to Offer Biocept's Target Selector NGS Lung Cancer Test Novacyt 2020 Revenues Surge on Strong Demand for SARS-CoV-2 Testing Products Leidos Wins CDC Bioinformatics Contract Worth up to $13M Thermo Fisher Scientific Next-Generation SARS-CoV-2 PCR Test Nabs CE-IVD Mark Cytosine Base Editor Enables Genome-Wide Genetic Function Screening The Scan Renewed Gain-of-Function Worries The New York Times writes that the pandemic is renewing concerns about gain-of-function research. Who's Getting the Patents? A trio of researchers has analyzed gender trends in biomedical patents issued between 1976 and 2010 in the US, New Scientist reports. Other Uses CBS Sunday Morning looks at how mRNA vaccine technology could be applied beyond SARS-CoV-2. PLOS Papers Present Analysis of Cervicovaginal Microbiome, Glycosylation in Model Archaea, More In PLOS this week: functional potential of the cervicovaginal microbiome, glycosylation patterns in model archaea, and more.