Base by Base explores advances in genetics and genomics, with a focus on gene-disease associations, variant interpretation, protein structure, and insights from exome and genome sequencing. Each episode breaks down key studies and their clinical relevance—one base at a time.
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️ Episode 70: Scalable Screening of Ternary-Code DNA Methylation Dynamics Associated with Human Traits
In this episode of Base por Base, we delve into a methodological breakthrough reported by Goldbe…
️ Episode 69: Synthetic Dosage Lethality of PLK1 — Targetable Vulnerabilities in PLK1-Overexpressing Cancers
In this episode of Base por Base, we delve into a comprehensive study by Cunningham et al.…
️ Episode 68: Indels Empower Antiviral Proteins to Achieve Functional Novelty Beyond Missense Mutations
In this episode of Base by Base, we dive into pioneering work by Tenthorey et al. (2025) in Cel…
️ Episode 67: Smarter Signals — How Multimodal AI Boosts Genetic Prediction of Heart Disease
In this episode of Base por Base, we delve into a major advancement in the intersection of artificial inte…
️ Episode 66: Mainstreaming Clinical Genetic Testing — A Conceptual Framework
In this episode of Base por Base, we delve into the consensus-based framework introduced by Mackley et al. (2025) in Gene…
️ Episode 65: Uncovering Hidden Splice Defects — Genome Sequencing and Group-Enrichment in Marfan Syndrome
In this episode of Base por Base, we delve into a groundbreaking study by Walker et al. (202…
️ Episode 64: Pisces — A Multi-Modal Framework for Predicting Drug Combination Synergy
In this episode of Base by Base, we delve into a groundbreaking methodological advance published by Xu et al. (2…
️ Episode 63: Sampling Scale Matters — A Spatial Model for Rare Variant Discovery in Biobank-Scale Datasets
In this episode of Base by Base, we delve into a methodological advance by Steiner et al. (…
️ Episode 62: Breaking Resistance — How BRCA2-Deficient Tumors Escape PARP Inhibition Without Reversion Mutations
In this episode of Base by Base, we explore a study by Pappas et al. (2025), publishe…
️ Episode 61: Monkeypox on the Frontline — Developing Brazil’s First qPCR Diagnostic Assay
In this episode of Base by Base, we trace the rapid development and rigorous validation of the first laborat…
️ Episode 60: Epi-PRS — A New Frontier in Polygenic Risk Prediction with Epigenomic Features
In this episode of Base by Base, we explore a breakthrough in genetic risk modeling presented by Zeng et a…
️ Episode 59: Building Trust — Redefining Participant and Community Engagement in Cancer Genomics
In this episode of Base by Base, we dive into a landmark article by Crossnohere et al. (2025), soon t…
️ Episode 58: Aneuploid Cells and Cellular Battles — How Cell Interactions Shape Genome Integrity
In this episode of Base by Base, we explore a groundbreaking study by Fusari et al. (2025), published…
️ Episode 57: Low Uptake of Genetic Testing in Medicaid-Enrolled Children with ASD and Intellectual Disability
In this episode of Base by Base, we delve into a comprehensive analysis by Brown et al. …
️ Episode 56: Neuronal Immunoproteasome — A Metabolic Trigger for Ferroptotic Neurodegeneration in Multiple Sclerosis
In this episode of Base by Base, we examine the transformative findings of Woo et…
️ Episode 55: Denisovan DNA in Dental Calculus — Linking Morphology and Genetics in a 146,000-Year-Old Hominin
In this episode of Base by Base, we delve into a groundbreaking study by Fu et al. (2025…
️ Episode 54: Temporal Immune Landscapes — A Multi-Omic Lens on COVID-19 in End-Stage Kidney Disease
In this new Base by Base episode we unpack a 2025 Cell Genomics study by Stephenson et al. that fo…
️ Episode 53: Weighing the Evidence — A Systematic Review of Polygenic Risk Score Economic Evaluations
In this episode of Base by Base, we explore the systematic review by Siena et al. (2025) in The …
️ Episode 52: Human Genetic Variation Reveals FCRL3 as a Lymphocyte Receptor for Yersinia pestis
In this episode of Base by Base, we dive into a cellular genome-wide association study (GWAS) of nearl…
️ Episode 51: Diagnosing the Undiagnosed — A Phenotype-Driven Pipeline for Mitochondrial DNA Discovery
In this episode of Base by Base, we dive into a powerful phenotype-guided strategy to uncover mi…