exome sequencing Genomic Approaches Boost Rare Disease Diagnoses in Middle Eastern Patient Population Findings from 1,000 rare disease cases assessed at Al Jalila Children's Specialty Hospital in Dubai highlight the importance of access to genomics-based diagnostic approaches. Geisinger MyCode Study Reveals Prevalence of Somatic Variants Linked to Rare Syndrome Using exome sequence data for more than 163,000 Geisinger MyCode participants, researchers looked for variants in UBA1 that have been linked to VEXAS syndrome. Sequencing Study Uncovers Genes Under Positive Selection in Large, Long-Lived Sea Creatures Sequences from a range of cetacean species suggest the aquatic environment has exerted selective pressure genes involved in growth, cancer suppression, and other features. Venous Thromboembolism Risk Rise Reported in Individuals With Extra Sex Chromosomes Researchers saw a significant uptick in VTE risk in individuals with supernumerary sex chromosome aneuploidies in both the Geisinger MyCode and UK Biobank cohorts. Rebranded GeneDx Bets Future on Whole-Exome, Whole-Genome Sequencing in Pediatric Rare Disease Premium After dropping underdeveloped Sema4 business lines but emphasizing the Centrellis informatics platform, the new GeneDx expects to reach profitability by 2025. Dec 30, 2022 Esophageal Cancer Molecular Study Highlights Tumor Subtypes, Treatment Response Markers Nov 30, 2022 Clonal Hematopoiesis Linked to Common, Rare Genetic Variants Nov 28, 2022 Studies Assess Tumor Aneuploidy to Guide Immunotherapy Treatment Nov 22, 2022 South Carolina Population Genomics Program Marks First Anniversary With Surge in Participation Premium Nov 17, 2022 Biomarker Predicts Immunotherapy Benefit in Head and Neck Cancer but Commercial Path Unclear Premium Nov 17, 2022 Turkish MDx Startup Elm Genomics Rolls Out Newborn Sequencing Test Premium Nov 9, 2022 Dante Genomics, Al Farabi Medical Laboratories Partner on NGS-Based Testing in Saudi Arabia Nov 3, 2022 Meta-Analyses Hint at Severe COVID-19 Risk Factors, Ties to Autoimmune Disease Nov 2, 2022 Twist Bioscience, Illumina Partner to Produce Exome Panel for Disease Research Oct 25, 2022 Childhood Epilepsy Risk Variant Traced Back to 800-Year-Old British Founder Event Oct 25, 2022 Diabetes Polygenic Risk Score Performance Improved by Addition of Rare Variants Sep 30, 2022 Tumor-Only Sequencing Found to Overestimate Mutational Burden in Non-European Patients Sep 15, 2022 Heart Disease Genes Flagged by Rare Variant Analysis of Spontaneous Coronary Artery Dissection Sep 13, 2022 Pediatric Patients Face Barriers Receiving Exome Sequencing From Insurance, Scheduling Delays Premium Sep 7, 2022 Head and Neck Cancer Treatment Targets, Biomarkers Unearthed in Cell Model Analyses Sep 7, 2022 Larger Liquid Biopsy Panels Loom, But Patient Benefit Still Uncertain Premium Aug 24, 2022 Mount Sinai Million Health Discoveries Program Represents New Ground for Partner Regeneron Premium Aug 19, 2022 Retinoblastoma Study Reveals Pathogenesis Gene Downstream of Mutated RB1 Aug 17, 2022 Schizophrenia Study Implicates Ultrarare Variants in Cognitive Features Aug 15, 2022 Phenotype Ties to Rare Variants Systematically Unearthed in UK Biobank Exomes Load More Breaking News Simple HealthKit Raises $8M in Series A Round Top Five Articles on GenomeWeb Last Week: Quantum-Si Layoffs, UBS Coverage Initiations, More LumiraDx Secures FDA Emergency Use Authorization, UK Approval for COVID-19, Flu Test Rarity Bioscience Raises Additional €500,000 Cancer Prognoses Informed by Module-Based Approach, Study Finds The Scan UK Team Presents Genetic, Epigenetic Sequencing Method Using enzymatic DNA preparation steps, researchers in Nature Biotechnology develop a strategy for sequencing DNA, along with 5-methylcytosine and 5-hydroxymethylcytosine, on existing sequencers. DNA Biobank Developed for French Kidney Donors, Recipients The KiT-GENIE biobank described in the European Journal of Human Genetics contains DNA samples, genotyping profiles, immune patterns, and clinical features for thousands of kidney donors or transplant recipients in Nantes, France. Cardiometabolic Disease May Have Distinct Associations With Microbial Metabolites in Blood, Gut By analyzing gut microbes in combination with related metabolites in feces and blood, researchers in Nature Communications found distinct cardiometabolic disease relationships at each site. Study Reveals New Details About Genetics of Major Cause of Female Infertility Researchers in Nature Medicine conducted a whole-exome sequencing study of mote than a thousand patients with premature ovarian insufficiency.