{"version":1,"type":"rich","provider_name":"Libsyn","provider_url":"https:\/\/www.libsyn.com","height":300,"width":600,"title":"Long Reads, Better Answers, Rare Diagnoses: Clinical Long-Read Sequencing Enters Prime Time \ud83e\uddec\ud83d\udd0d\ud83d\udcc8","description":"\ud83e\uddec Exciting advances in rare disease diagnostics! &amp;nbsp; A new NEJM report shows that long-read genome sequencing (lrGS) can function as a first-tier diagnostic test, achieving a higher diagnostic yield than standard approaches (19.2% vs. 16.5%) and an impressive 96.4% concordance. \ud83d\ude80 &amp;nbsp; Beyond identifying conventional variants, lrGS improves haplotype phasing, detects novel variants, and provides epigenetic insights through DNA methylation analysis. In a modeled real-world cohort of 15,150 patients, lrGS increased diagnostic yield by 2.5 percentage points. &amp;nbsp; A glimpse into the future of precision medicine and rare disease care. \ud83e\uddec\ud83d\udd0d\ud83d\udcc8 #Genomics #RareDisease #PrecisionMedicine #MedicalPodcasts #NEJM ","author_name":"Dr. RR Baliga's 'Podkast for the Kurious Doc'. Where Curiosity meets Clarity!","author_url":"http:\/\/www.MasterMedFacts.com","html":"<iframe title=\"Libsyn Player\" style=\"border: none\" src=\"\/\/html5-player.libsyn.com\/embed\/episode\/id\/41648085\/height\/300\/theme\/custom\/thumbnail\/yes\/direction\/forward\/render-playlist\/no\/custom-color\/88AA3C\/\" height=\"300\" width=\"600\" scrolling=\"no\"  allowfullscreen webkitallowfullscreen mozallowfullscreen oallowfullscreen msallowfullscreen><\/iframe>","thumbnail_url":"https:\/\/assets.libsyn.com\/secure\/content\/202974715"}