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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

️ 66: Mainstreaming Clinical Genetic Testing — A Conceptual Framework

Episode 66

July 05, 2025

️ 66: Mainstreaming Clinical Genetic Testing — A Conceptual Framework

️ Episode 66: Mainstreaming Clinical Genetic Testing — A Conceptual Framework In this episode of Base por Base, we delve into the consensus-based framework...

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00:20:02

️ 65: Uncovering Hidden Splice Defects — Genome Sequencing and Group-Enrichment in Marfan Syndrome

Episode 65

July 04, 2025

️ 65: Uncovering Hidden Splice Defects — Genome Sequencing and Group-Enrichment in Marfan Syndrome

️ Episode 65: Uncovering Hidden Splice Defects — Genome Sequencing and Group-Enrichment in Marfan Syndrome In this episode of Base por Base, we delve...

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00:18:37

️ 64: Pisces — A Multi-Modal Framework for Predicting Drug Combination Synergy

Episode 64

July 03, 2025

️ 64: Pisces — A Multi-Modal Framework for Predicting Drug Combination Synergy

️ Episode 64: Pisces — A Multi-Modal Framework for Predicting Drug Combination Synergy In this episode of Base by Base, we delve into a...

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00:23:10

️ 63: Sampling Scale Matters — A Spatial Model for Rare Variant Discovery in Biobank-Scale Datasets

Episode 63

July 02, 2025

️ 63: Sampling Scale Matters — A Spatial Model for Rare Variant Discovery in Biobank-Scale Datasets

️ Episode 63: Sampling Scale Matters — A Spatial Model for Rare Variant Discovery in Biobank-Scale Datasets In this episode of Base by Base,...

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00:23:10

️ 62: Breaking Resistance — How BRCA2-Deficient Tumors Escape PARP Inhibition Without Reversion Mutations

Episode 62

July 01, 2025

️ 62: Breaking Resistance — How BRCA2-Deficient Tumors Escape PARP Inhibition Without Reversion Mutations

️ Episode 62: Breaking Resistance — How BRCA2-Deficient Tumors Escape PARP Inhibition Without Reversion Mutations In this episode of Base by Base, we explore...

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00:17:00

️ 61: Monkeypox on the Frontline — Developing Brazil’s First qPCR Diagnostic Assay

Episode 61

June 30, 2025

️ 61: Monkeypox on the Frontline — Developing Brazil’s First qPCR Diagnostic Assay

️ Episode 61: Monkeypox on the Frontline — Developing Brazil’s First qPCR Diagnostic Assay In this episode of Base by Base, we trace the...

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00:22:43