Radboud University Medical Centre European Consortium Nets €1M for Test to Predict Bladder Cancer Immunotherapy Response The Eurostars grant will allow PamGene, Novigenix, and Radboud University Medical Center to develop a liquid biopsy test using mRNA and kinase activity profiling. Study Shows 1 Percent of European Couples at Risk of Having Child With Severe Recessive Disorder Based on 6,447 exome sequences, the researchers estimated that every person is a carrier of at least two pathogenic variants in autosomal-recessive genes. 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. Bionano Genomics Expecting Clinical Validation Studies to Drive Platform Adoption Premium The firm is hoping that researcher-generated data will soon be published in peer-reviewed papers, while it weathers the COVID-19 pandemic. Immune-Related Gene Implicated in Chronic Candida Yeast Infection Risk A genome-wide association study that included two European cohorts pointed to a potential role for the SIGLEC15 gene in recurrent vulvovaginal candidiasis susceptibility. May 29, 2018 Myopia Meta-Analysis Expands, Clarifies Pathways Contributing to Refractive Eye Errors Apr 26, 2018 Radboud UMC, NimaGen Partner to Develop Targeted Sequencing Kits Jan 16, 2018 European Rare Disease Research Consortium Plans to Diagnose Patients With 'Unsolvable' Disorders Premium Jan 12, 2018 GeneDx, Radboud UMC Collaborate on Research Into Neurodevelopmental Disorders Dec 1, 2016 Study Suggesting Breast Cancer Patients at Low Genomic Risk Could Avoid Chemotherapy Criticized Oct 7, 2016 Haplotype-Resolved Structural Variant Map Highlights Complexity of Human Genome Sep 26, 2016 Investigators Weigh Nitty Gritty of Sequencing Costs, Question $1,000 Genome Premium Aug 2, 2016 New De Novo Gene Mutations Implicated in Intellectual Disability Oct 19, 2015 MDxHealth to Join Dutch Prostate Cancer Clinical Study Jun 12, 2015 Exome Sequencing Uncovers De Novo Mutations in Individuals With Rare Facial Paralysis Syndrome Apr 13, 2015 Exploratory Study Provides Early Evidence for PGx Chemo Response Predictor in Osteosarcoma Premium Feb 11, 2015 Study Describes Initial Development of New Ion PGM Solid Tumor Hotspot Panel Premium Nov 12, 2014 Netherlands Embarks on NIPT Evaluation Study; Next Steps on Implementation Expected in 2015 Premium 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 Aug 23, 2012 Alnylam, Collaborators Report on RNAi Enhancement of Dendritic Cancer Cell Vaccine Premium Jul 3, 2012 At ESHG, Radboud University Team Reports High Diagnostic Yield for Exome Sequencing Premium Jun 12, 2012 European Study Notes Growing Use of Arrays over Karyotyping in Routine Hematological Cancer Diagnosis Premium Apr 25, 2012 Dutch Group Adapts Non-Invasive Prenatal Trisomy Sequencing for SOLiD; Plans Clinical Use across Netherlands Premium Apr 10, 2012 Sequencing Technique Enables Direct Comparison of Methylation Status with Histone Modifications Premium Load More Breaking News Biocartis Receives FDA 510(k) Clearance for Sepsis Assay DNA Script Receives CE Mark for Syntax Enzymatic DNA Synthesis Platform Exact Sciences, Pfizer End Cologuard Copromotion Agreement Genetron Health Q3 Revenues up 36 Percent, Firm Announces AstraZeneca MRD Partnership BioMark Diagnostics, AstraZeneca, Pfizer, Others Partner in Lung Cancer Screening Project Akoya Receives CLIA Certification for Biopharma Solutions Laboratory The Scan Looking for Omicron NPR reports that SARS-CoV-2 testing in the US has gotten better but also that some experts say more needs to be done to better track the Omicron variant. Holmes Alleges Abuse The Associated Press reports that Theranos' Elizabeth Holmes has testified at her wire fraud trial that her business and romantic partner abused her. Bit More Diverse, But More to Do While Black and Hispanic patients are more likely to participate in cancer clinical trials than previously, they are still underrepresented, according to US News & World Report. PNAS Papers on Yeast Gene Silencing, Zika Virus Inhibition, Immunoglobulin Hypermutation In PNAS this week: gene silencing in Saccharomyces cerevisiae, possible neuroprotective role for SHFL in a mouse model of Zika virus infection, and more.