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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

️ 10: Targeting the Genome: Guidelines for Antisense Oligonucleotide Therapy Eligibility

Episode 10

April 18, 2025

️ 10: Targeting the Genome: Guidelines for Antisense Oligonucleotide Therapy Eligibility

️ Episode 10: Targeting the Genome: Guidelines for Antisense Oligonucleotide Therapy Eligibility In this episode of Base by Base, we explore a transformative study...

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00:19:38

️ 9: Unraveling Complexity: A Bayesian Graphical Model for Joint Mendelian Randomization

Episode 9

April 18, 2025

️ 9: Unraveling Complexity: A Bayesian Graphical Model for Joint Mendelian Randomization

️ Episode 9: Unraveling Complexity: A Bayesian Graphical Model for Joint Mendelian Randomization In this episode of Base by Base, we explore a groundbreaking...

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00:20:34

️ 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