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Base by Base

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...more

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Latest Episodes

️ 72: The POC5 Syndrome — A Ciliopathy Linking Retina, Muscles and Metabolism

Episode 72

July 11, 2025

️ 72: The POC5 Syndrome — A Ciliopathy Linking Retina, Muscles and Metabolism

️ Episode 72: The POC5 Syndrome — A Ciliopathy Linking Retina, Muscles and Metabolism In this episode of Base by Base, we explore a...

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00:19:44

️ 71: ELFN1 Deficiency Disorder — Mechanistic Basis and Phenotypic Spectrum of a Neurodevelopmental Disorder with Epilepsy

Episode 71

July 10, 2025

️ 71: ELFN1 Deficiency Disorder — Mechanistic Basis and Phenotypic Spectrum of a Neurodevelopmental Disorder with Epilepsy

️ Episode 71: ELFN1 Deficiency Disorder — Mechanistic Basis and Phenotypic Spectrum of a Neurodevelopmental Disorder with Epilepsy In this episode of Base by...

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00:25:16

️ 70: Scalable Screening of Ternary-Code DNA Methylation Dynamics Associated with Human Traits

Episode 70

July 09, 2025

️ 70: Scalable Screening of Ternary-Code DNA Methylation Dynamics Associated with Human Traits

️ Episode 70: Scalable Screening of Ternary-Code DNA Methylation Dynamics Associated with Human Traits In this episode of Base por Base, we delve into...

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00:19:10

️ 69: Synthetic Dosage Lethality of PLK1 — Targetable Vulnerabilities in PLK1-Overexpressing Cancers

Episode 69

July 08, 2025

️ 69: Synthetic Dosage Lethality of PLK1 — Targetable Vulnerabilities in PLK1-Overexpressing Cancers

️ Episode 69: Synthetic Dosage Lethality of PLK1 — Targetable Vulnerabilities in PLK1-Overexpressing Cancers In this episode of Base por Base, we delve into...

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00:16:15

️ 68: Indels Empower Antiviral Proteins to Achieve Functional Novelty Beyond Missense Mutations

Episode 68

July 07, 2025

️ 68: Indels Empower Antiviral Proteins to Achieve Functional Novelty Beyond Missense Mutations

️ Episode 68: Indels Empower Antiviral Proteins to Achieve Functional Novelty Beyond Missense Mutations In this episode of Base by Base, we dive into...

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00:16:04

️ 67: Smarter Signals — How Multimodal AI Boosts Genetic Prediction of Heart Disease

Episode 67

July 06, 2025

️ 67: Smarter Signals — How Multimodal AI Boosts Genetic Prediction of Heart Disease

️ Episode 67: Smarter Signals — How Multimodal AI Boosts Genetic Prediction of Heart Disease In this episode of Base por Base, we delve...

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00:14:47