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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

️ 8: Mapping Structural Variation: A Global Reference for Clinical and Population Genomics

Episode 8

April 17, 2025

️ 8: Mapping Structural Variation: A Global Reference for Clinical and Population Genomics

️ Episode 8: Mapping Structural Variation: A Global Reference for Clinical and Population Genomics In this episode of Base by Base, we explore a...

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00:24:51

️ 7: Filtering with Precision: How High-Resolution Variant Frequencies Enhance Clinical Genome Interpretation

Episode 7

April 17, 2025

️ 7: Filtering with Precision: How High-Resolution Variant Frequencies Enhance Clinical Genome Interpretation

️ Episode 7: Filtering with Precision: How High-Resolution Variant Frequencies Enhance Clinical Genome Interpretation In this episode of Base by Base, we explore a...

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00:19:10

️ 6: Cracking the Code: How TRMT1 Mutations Disrupt tRNA and Drive Neurodevelopmental Disorders

Episode 6

April 17, 2025

️ 6: Cracking the Code: How TRMT1 Mutations Disrupt tRNA and Drive Neurodevelopmental Disorders

️ Episode 6: Cracking the Code: How TRMT1 Mutations Disrupt tRNA and Drive Neurodevelopmental Disorders In this episode of Base by Base, we dive...

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00:26:15

️5: Decoding Preterm Birth: How cfDNA Promoter Profiles Can Predict Pregnancy Risk

Episode 5

April 16, 2025

️5: Decoding Preterm Birth: How cfDNA Promoter Profiles Can Predict Pregnancy Risk

️ Episode 5: Decoding Preterm Birth: How cfDNA Promoter Profiles Can Predict Pregnancy Risk In this episode of Base by Base, we dive into...

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00:14:43

️4: Shaping the Heart: How CXCL12 Drives Coronary Artery Anatomy

Episode 4

April 16, 2025

️4: Shaping the Heart: How CXCL12 Drives Coronary Artery Anatomy

️ Episode 4: Shaping the Heart: How CXCL12 Drives Coronary Artery Anatomy In this episode of Base by Base, we explore a groundbreaking 2025...

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00:17:11

️3: Heuristics in Splicing: Rethinking Variant Impact from the Genome Up

Episode 3

April 16, 2025

️3: Heuristics in Splicing: Rethinking Variant Impact from the Genome Up

️ Episode 3: Heuristics in Splicing: Rethinking Variant Impact from the Genome Up In this episode of Base by Base, we discuss a 2025...

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00:22:42