epilepsy Sanford Health Looks to Improve Rare Disease Dx, Research With Congenica Technology Premium The widely dispersed health system is integrating the Congenica platform into its clinical and research workflows to uncover genetic bases for rare conditions. Epilepsy Exomes From Epi25 Project Lead to Mutation-Intolerant Gene Regions Premium Rare variants turned up across epilepsy cases but appeared to be more common in mutation-intolerant gene regions in individuals with the most severe epilepsy subtype. Invitae, Pacific Biosciences Collaborate on NGS-Based Pediatric Epilepsy Testing The firms will conduct PacBio whole-genome sequencing on epilepsy patients to generate variant profiles that can help the development of diagnostic assays. CHOP Automates Phenotyping of Epilepsy Patients, Heralding 'EMR Genomics' Era Premium In a newly published paper, CHOP researchers described a method for rebuilding patient histories en masse to create gene-specific "footprints" in clinical records. Centogene, Molecular Health Sign Collaboration to Improve Orphan Drug Development The firms will combine real-life data sets in rare diseases with expertise in big data, artificial intelligence, and computational algorithms. May 26, 2020 With Low-Cost SARS-CoV-2 Assay, FYR Diagnostics Looks to Bypass Equipment Bottlenecks Premium May 8, 2020 Australian Government Awards A$33M in Grants for Genomics Research Jan 22, 2020 Quest Diagnostics Acquires Blueprint Genetics Dec 27, 2019 SPARK Autism Research Initiative Obtains First Results, Explores New Recruitment Strategies Premium Nov 14, 2019 Kailos Genetics, Doc.ai Partner With Stanford on Epilepsy Digital Health Trial Premium Oct 10, 2019 FYR Diagnostics Wins $618K NIH Grant to Develop Acquired Epilepsy Assay Oct 3, 2019 Blueprint Genetics to Open North American Lab as Biopharma Business Grows Premium Sep 16, 2019 Interoperability Network Helps Children's Hospitals Aggregate Genotype-Phenotype Data Premium 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 Mar 7, 2019 NYCKidSeq Project Aims to Improve Communication of Genomic Test Results Premium Feb 26, 2019 Invitae Partners to Expand Free Epilepsy Genetic Testing Program Feb 11, 2019 UCB, Epilepsy Society Partner to Study Genetics of Epilepsy Dec 11, 2018 Epilepsy GWAS Leads to New Loci, Potential Drug Targets Nov 6, 2018 Childhood Epilepsy Diagnoses Shift With Genomic Reinterpretation Oct 22, 2018 UCL, Congenica, UK Epilepsy Society to Examine Genetic Risk Factors for Sudden Epileptic Death Oct 19, 2018 Epilepsy, Developmental Disorders Linked to De Novo Mutations in Calcium Channel Subunit Aug 13, 2018 Deep Whole-Genome Sequencing Diagnoses Early Infantile Epileptic Encephalopathy Jun 25, 2018 Neurodevelopmental Disorders Involving Epilepsy Include Some Distinct De Novo Variants Feb 12, 2018 Congenica Teams With Ireland's FutureNeuro in Pursuit of Better Epilepsy Diagnosis Load More Breaking News Pediatric Medulloblastoma Subgroups May Benefit from Lower-Dose Radiation Therapy Space Radiation Shows Limited Effects on Mammalian Sperm DNA, Fertility Bluestar Genomics Sues Former Consultant, Ludwig Institute for Cancer Research Over IP Ownership New Products Posted to GenomeWeb: 10x Genomics, Swift Biosciences, Agilent Technologies, More In Brief This Week: Quantum-Si, TGen, Yale, and More People in the News: New Appointments at Invitae, PGDx, Oxford Nanopore, PacBio, More The Scan Fertility Fraud Found Consumer genetic testing has uncovered cases of fertility fraud that are leading to lawsuits, according to USA Today. Ties Between Vigorous Exercise, ALS in Genetically At-Risk People Regular strenuous exercise could contribute to motor neuron disease development among those already at genetic risk, Sky News reports. Test Warning The Guardian writes that the US regulators have warned against using a rapid COVID-19 test that is a key part of mass testing in the UK. Science Papers Examine Feedback Mechanism Affecting Xist, Continuous Health Monitoring for Precision Medicine In Science this week: analysis of cis confinement of the X-inactive specific transcript, and more.