Base by Base

Episode 30: Heart in the Genes — A New Genetic Syndrome Linked to POPDC2

In this episode of Base by Base, we delve into a groundbreaking study by Nicastro et al. (2025), published in The American Jo…

️ Episode 29: Rethinking Agency for Genetic Testing Intention among Latinos — Determining Predictors of Intention for Carrier Screening and Cancer Predisposition Testing

In this episode of Base por B…

️ Episode 28: Cell-Type-Resolved TWAS — scPrediXcan Integrates Deep Learning and Single-Cell Data for Transcriptome-Wide Association Studies
In this episode of Base por Base, we explore the groundbre…

️ Episode 27: Nucleocytosolic Vehicles — A CRISPR RNP Delivery Breakthrough

In this episode of Base by Base, we delve into a novel virus-like particle (VLP) platform, ENVLPE, developed by Geilenkeuse…

️ Episode 26: Reannotation in Focus — Uncovering Functional Non-Coding Mutations in Melanoma

In this episode of Base por Base, we delve into a breakthrough study by Pepe et al. (2025) in The American…

️ Episode 25: Uncovering Mitochondrial DNA Diseases — The Solve-RD Experience with Genotype and Phenotype Integration

In this episode of Base por Base, we delve into a groundbreaking study by Ratnaik…

️ Episode 24: The Role of the X Chromosome in Complex Trait Genetics — Unraveling Dosage-Compensation Mechanisms
In this installment of Base por Base, we delve into groundbreaking work by Fu et al. (…

️ Episode 23: Evaluating the Return of Additional Findings from the 100,000 Genomes Project — Participant Experiences of Secondary Genomic Findings

In this episode of Base por Base, we explore a mixe…

️ Episode 22: Immune Sensing Unveiled — Ribonuclease Control of Naked Extracellular RNA

In this episode of Base por Base, we explore a landmark study by Castellano et al. (2025) published in Cell Gen…

️ Episode 21: High-Throughput Variant Discovery — Pooled Prime Editing in Human Cells

In this episode of Base by Base, we explore a cutting-edge platform for scalable functional screening of human ge…

️ Episode 20: Genotype-Specific Chemoprevention with Sulfadoxine-Pyrimethamine

In this episode of Base by Base, we examine a comprehensive analysis by Mousa et al. (2025) in Nature Communications tha…

️ Episode 19: Systematic Identification of Promoter and UTR Variants in Rare Disease Diagnostics

In this episode of Base by Base, we delve into Martin-Geary et al.’s (2025) innovative framework for u…

️ Episode 18: Bi-allelic UGGT1 Variants Define a Distinct Congenital Disorder of Glycosylation

In this episode of PaperCast Base by Base, we explore the identification of bi-allelic variants in the U…

️ Episode 16: Equity in Focus: Building a Truly Global Genomic Landscape

In this episode of Base by Base, we address one of the most pressing issues in human genomics: the need to close the ancestral…

️ Episode 15: What Makes Us Human? Genetics from Neandertals to Now

In this episode of Base by Base, we travel back in time—over 600,000 years—to explore the genomic storylines of Neandertals, Deniso…

️ Episode 14: Beyond the Genome: Societal Value of National Genomics Programmes

In this episode of Base by Base, we discuss a thought-provoking report published in the European Journal of Human Genet…

️ Episode 13: Decoding De Novo: A Multigenerational Benchmark for Human Mutation Rates

In this episode of Base by Base, we explore a monumental study published in Nature that redefines how we underst…

️ Episode 12: Repairing the Blueprint: Insights from MUTYH Structure and Cancer-Associated Variants

In this episode of Base by Base, we explore a pivotal study published in Nature Communications that…

️ Episode 11: Targeting Mitochondria: A Therapeutic Strategy for Dnmt3a-Mutant Clonal Hematopoiesis

In this episode of Base by Base, we dive into a compelling study published in Nature Communications…