rare disease 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. Remote Visualization of Local Genome Alignments Aids Pathogenic Variant Evaluation for Rare Disease Premium Researchers at Barcelona's CNAG-CRG are assessing variants in rare disease patients by linking them to alignments of "slices" of genomes and exomes in the European Genome-Phenome Archive. 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. FinnGen Study Demonstrates Value of Analyzing Isolated Populations Investigators from the University of Helsinki and the Broad Institute led the study, which looked at the effects of 44,370 variants on more than 1,900 diseases in participants. 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. Jan 9, 2023 Centogene Strikes Deals With Premier Research, Denali Therapeutics for Clinical Trials Dec 22, 2022 Genomic Medicine Adoption May be Hindered by Shortcomings in ICD-10 Coding Premium Dec 19, 2022 Centogene Gets Nasdaq Non-Compliance Notice Dec 12, 2022 Genomic Biopharma Partners With Italian Patient Advocacy Group to Offer Whole-Genome Sequencing Dec 9, 2022 Texas Whole-Exome Sequencing Project Aims to Help Address Disparities in Genomic Medicine Premium Dec 6, 2022 Pacific Biosciences, Boston Children's Hospital to Collaborate on Rare Disease Variant Pilot Project Nov 29, 2022 Genomenon Partners With Neurodevelopmental Disease Groups on Drug Development Nov 21, 2022 Whole-Genome Sequencing Can Help Diagnose Adults With Rare Disease, Study Presented at NSGC Finds Premium Nov 3, 2022 Centogene to Offer Genomic Data for Rare Neurodegenerative Diseases on BC Platforms Network Oct 27, 2022 Invitae, AstraZeneca Partner for Cholangiocarcinoma Study Using Ciitizen Data Platform Oct 26, 2022 AnFiSA Developers Ready Open-Source Analysis Software for Simultaneous Research, Clinical Use Premium Oct 18, 2022 Variantyx Secures $20M Debt Financing to Support Precision Medicine in North America, Europe Oct 10, 2022 Invitae's Ciitizen Platform Aims to Break Down Barriers for Rare Disease Patients and Researchers Premium Oct 10, 2022 Genomic Newborn Screening Studies Around the World Begin to Take Baby Steps Premium Oct 5, 2022 Sema4's GeneDx to Provide Genome Sequencing, Interpretation for Large-Scale Newborn Screening Study Oct 3, 2022 Rady Children's, PlumCare RWE Partner to Expand WGS-Based Newborn Screening Program to Greece Sep 28, 2022 Geneial Proposes Marketplace Approach to Rare Disease Data Sharing Premium Sep 22, 2022 Geneial Nabs $2.3M NIH Grant for Rare Disease Data Platform Sep 8, 2022 Dante Genomics, TMA Precision Health Partner for Rare Disease Diagnostics Sep 6, 2022 Oxford Nanopore, Al Jalila Children's Specialty Hospital Launch Rare Disease Sequencing Program 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.