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PODCAST

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 relevance—one base at a time. Powered by AI, Base by Base offers a new way to learn on the go. Special thanks to authors who publish under CC BY 4.0, making open-access science faster to share and easier to explore.

science life sciences

All Episodes

00:18:23

🎙️ Episode 8: Mapping Structural Variation: A Global...

Base by Base ·

2025/04/17

🎙️ Episode 8: Mapping Structural Variation: A Global Reference for Clinical and Population Genomics🧬 In this episode of Base by Base, we explore a landmark study published in Nature that presents the first high-resolution, sequence-resolved map of structural variants (SVs) across human populations. Built from 14,891 genomes analyzed through the Genome Aggregation Database (gnomAD), this study delivers a transformative resource for medical genetics, population studies, and clinical diagnostics.Led

en-us

00:24:51

️ 8: Mapping Structural Variation: A Global Reference...

Base by Base ·

2025/04/17

️ Episode 8: Mapping Structural Variation: A Global Reference for Clinical and Population Genomics In this episode of Base by Base, we explore a landmark study published in Nature that presents the first high-resolution, sequence-resolved map of structural variants (SVs) across human populations. Built from 14,891 genomes analyzed through the Genome Aggregation Database (gnomAD), this study delivers a transformative resource for medical genetics,

en-us

00:19:10

️ 7: Filtering with Precision: How High-Resolution...

Base by Base ·

2025/04/17

️ Episode 7: Filtering with Precision: How High-Resolution Variant Frequencies Enhance Clinical Genome Interpretation In this episode of Base by Base, we explore a landmark study published in Genetics in Medicine that presents a statistical framework for leveraging large-scale population databases to improve the interpretation of rare genetic variants in clinical genomics.Led by Whiffin and colleagues, the 2017 study proposes a method to set

en-us

00:17:03

🎙️Episode 7: Filtering with Precision: How...

Base by Base ·

2025/04/17

🎙️ Episode 7: Filtering with Precision: How High-Resolution Variant Frequencies Enhance Clinical Genome Interpretation🧬 In this episode of Base by Base, we explore a landmark study published in Genetics in Medicine that presents a statistical framework for leveraging large-scale population databases to improve the interpretation of rare genetic variants in clinical genomics.Led by Whiffin and colleagues, the 2017 study proposes a method to set disease-specific allele frequency thresholds based on

en-us

00:26:15

️ 6: Cracking the Code: How TRMT1 Mutations Disrupt...

Base by Base ·

2025/04/17

️ Episode 6: Cracking the Code: How TRMT1 Mutations Disrupt tRNA and Drive Neurodevelopmental Disorders In this episode of Base by Base, we dive into a 2025 study published in The American Journal of Human Genetics that sheds light on how pathogenic variants in the TRMT1 gene disrupt tRNA modification, leading to a newly characterized neurodevelopmental disorder.Led by Efthymiou and colleagues, the study describes 43 individuals from 31 families carrying

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00:20:37

🎙️Episode 6: Cracking the Code: How TRMT1 Mutations...

Base by Base ·

2025/04/17

🎙️ Episode 6: Cracking the Code: How TRMT1 Mutations Disrupt tRNA and Drive Neurodevelopmental Disorders🧠 In this episode of Base by Base, we dive into a 2025 study published in The American Journal of Human Genetics that sheds light on how pathogenic variants in the TRMT1 gene disrupt tRNA modification, leading to a newly characterized neurodevelopmental disorder.Led by Efthymiou and colleagues, the study describes 43 individuals from 31 families carrying biallelic TRMT1 variants. Through human

en-us

00:14:43

️5: Decoding Preterm Birth: How cfDNA Promoter...

Base by Base ·

2025/04/16

️ Episode 5: Decoding Preterm Birth: How cfDNA Promoter Profiles Can Predict Pregnancy Risk In this episode of Base by Base, we dive into a large-scale 2025 study published in PLOS Medicine that explores how genome-wide nucleosome footprints of plasma cell-free DNA (cfDNA) can be leveraged to predict spontaneous preterm birth (sPTB). This innovative work introduces PTerm, a promoter-profiling-based classifier built from cfDNA data routinely collected

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00:15:47

🎙️Episode 5: Decoding Preterm Birth: How cfDNA...

Base by Base ·

2025/04/16

🎙️ Episode 5: Decoding Preterm Birth: How cfDNA Promoter Profiles Can Predict Pregnancy Risk🩸 In this episode of Base by Base, we dive into a large-scale 2025 study published in PLOS Medicine that explores how genome-wide nucleosome footprints of plasma cell-free DNA (cfDNA) can be leveraged to predict spontaneous preterm birth (sPTB). This innovative work introduces PTerm, a promoter-profiling-based classifier built from cfDNA data routinely collected during non-invasive prenatal testing

en-us

00:13:52

🎙️Episode 4: Shaping the Heart: How CXCL12 Drives...

Base by Base ·

2025/04/16

🎙️ Episode 4: Shaping the Heart: How CXCL12 Drives Coronary Artery Anatomy🫀 In this episode of Base by Base, we explore a groundbreaking 2025 study published in Cell that reveals how the gene CXCL12 contributes to natural variation in coronary artery anatomy across diverse human populations. The study identifies CXCL12 as a key regulator of coronary artery dominance — a developmental trait that determines whether the right, left, or both coronary arteries perfuse the posterior heart.Combining

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00:17:11

️4: Shaping the Heart: How CXCL12 Drives Coronary...

Base by Base ·

2025/04/16

️ Episode 4: Shaping the Heart: How CXCL12 Drives Coronary Artery Anatomy In this episode of Base by Base, we explore a groundbreaking 2025 study published in Cell that reveals how the gene CXCL12 contributes to natural variation in coronary artery anatomy across diverse human populations. The study identifies CXCL12 as a key regulator of coronary artery dominance — a developmental trait that determines whether the right, left, or both coronary arteries

en-us

00:15:21

🎙️Episode 3: Heuristics in Splicing: Rethinking...

Base by Base ·

2025/04/16

🎙️ Episode 3: Heuristics in Splicing: Rethinking Variant Impact from the Genome Up🧬 In this episode of Base by Base, we discuss a 2025 study published in The American Journal of Human Genetics that introduces a comprehensive, data-driven framework to enhance the assessment of splice-altering variants (SAVs). These variants, often overlooked in variant classification workflows, are now being reevaluated with a new lens grounded in splicing biology and empirical data.The study led by Sullivan and

en-us

00:22:42

️3: Heuristics in Splicing: Rethinking Variant Impact...

Base by Base ·

2025/04/16

️ Episode 3: Heuristics in Splicing: Rethinking Variant Impact from the Genome Up In this episode of Base by Base, we discuss a 2025 study published in The American Journal of Human Genetics that introduces a comprehensive, data-driven framework to enhance the assessment of splice-altering variants (SAVs). These variants, often overlooked in variant classification workflows, are now being reevaluated with a new lens grounded in splicing biology and

en-us

00:15:48

🎙️Episode 2: Tube Matters: How Additives Shape...

Base by Base ·

2025/04/16

In this episode of Base by Base, we delve into a pivotal study examining how different blood collection tube additives—EDTA, citrate, heparin, and serum—affect the integrity of cell-free DNA (cfDNA). The research highlights that EDTA-plasma offers superior preservation of cfDNA due to its effective inhibition of DNase activity, resulting in minimal degradation. Conversely, heparin-plasma and serum samples exhibit higher DNase activity, leading to significant cfDNA degradation, which can compromise

en-us

00:16:23

️2: Tube Matters: How Additives Shape Cell-Free DNA...

Base by Base ·

2025/04/16

In this episode of Base by Base, we delve into a pivotal study examining how different blood collection tube additives—EDTA, citrate, heparin, and serum—affect the integrity of cell-free DNA (cfDNA). The research highlights that EDTA-plasma offers superior preservation of cfDNA due to its effective inhibition of DNase activity, resulting in minimal degradation. Conversely, heparin-plasma and serum samples exhibit higher DNase activity, leading to

en-us

00:20:07

🎙️Episode 1: Structure-Informed Scoring: Enhancing...

Base by Base ·

2025/04/15

In this episode of Base by Base, we explore a recent study published in The American Journal of Human Genetics that investigates the integration of structural biology into the ACMG/AMP framework for classifying BRCA1 missense variants. The research assesses how incorporating structure-based evidence—such as relative solvent accessibility (RSA), folding stability (ΔΔG), and AlphaMissense pathogenicity scores—can refine the application of computational evidence codes PP3 and BP4. By utilizing tools

en-us

00:20:25

️1: Structure-Informed Scoring: Enhancing BRCA1...

Base by Base ·

2025/04/15

In this episode of Base by Base, we explore a recent study published in The American Journal of Human Genetics that investigates the integration of structural biology into the ACMG/AMP framework for classifying BRCA1 missense variants. The research assesses how incorporating structure-based evidence—such as relative solvent accessibility (RSA), folding stability (ΔΔG), and AlphaMissense pathogenicity scores—can refine the application of computational

en-us

456 results

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