Geisinger Health System 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. Freenome Partners With Geisinger to Recruit Patients for Multi-Cancer Screening Study The Pennsylvania health system will be able to access patients in both urban and rural settings, aiding Freenome's goal to recruit a total of 8,000 individuals. 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. Rare Single-Gene Variants Confer High Risk for Mental Health Conditions, Geisinger Study Shows Premium Researchers suggest physicians should more routinely order genetic testing for patients with mental health disorders, a group that has historically been undertested. Clonal Hematopoiesis Linked to Common, Rare Genetic Variants Analyzing almost 628,400 exome sequences, researchers found common and rare variants corresponding with different forms of clonal hematopoiesis of indeterminate potential. Nov 28, 2022 NIDA Awards Geisinger $973K to Study Genomics of Opioid Use Disorder Aug 4, 2022 Geisinger Researchers Win $7M for Familial Hypercholesterolemia Studies With Genetic Testing Premium Jan 5, 2022 Facing Criticism, EHR Vendors Say They're Making Progress in Supporting Genomics Premium Nov 19, 2021 Most Genetic Counselors Encounter Discrepant Variant Classifications, Must Work Out Interpretations Premium Sep 23, 2021 Geisinger Wins $5M NIH Grant to Develop Point-of-Care Genetic Diagnostic Tool Jul 2, 2021 People in the News: New Appointments at Genetron Health, BioSkryb, Geisinger, More Jul 2, 2021 Geisinger Trial to Evaluate Chatbot to Boost Cascade Testing in Familial Hypercholesterolemia Premium Apr 29, 2021 Geisinger Health System Wins $3.6M NIH Grant to Study Genetics of Cancer Risk Feb 2, 2021 Exome Sequencing Provides Molecular Diagnosis in Portion of Cerebral Palsy Cases Jan 23, 2020 Geisinger National Experts Join Genome Medical to Help Implement Population Genomics Programs Premium Nov 11, 2019 Chatbots Could Help Human Genetic Counselors Focus on Patient Concerns Jul 2, 2019 Dilated Cardiomyopathy Risk Increased in Only Some With Titin Truncations May 20, 2019 Startup GenomeSmart to Address Lack of Genetic Testing Knowledge With Digital Solution Premium Feb 28, 2019 Geisinger, Johns Hopkins Testing Liquid Biopsy Assay for Early Cancer Detection Jan 8, 2019 JP Morgan Healthcare, Day One: 10x Genomics, Myriad, Bruker, Konica Minolta, Geisinger Nov 19, 2018 At NSGC, Genetic Counselors Discuss Why, How Gene Variants Are Reclassified Sep 25, 2018 Geisinger Deploys 'Gia' Chatbot to Help Genetic Counselors Manage MyCode Participants Premium Sep 21, 2018 Geisinger Exome Study IDs Breast Cancer Risk Variants That May Not Have Been Detected in Routine Care Sep 11, 2018 Yale to Launch Large-Scale Genomic Medicine Project Premium Aug 9, 2018 Geisinger Team Describes Approach for Returning Secondary Genomic Findings to Research Participants 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.