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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

00:25:44

️ 14: Beyond the Genome - Societal Value of National...

Base by Base ·

2025/04/25

️ Episode 14: Beyond the Genome: Societal Value of National Genomics Programmes In this episode of Base by Base, we discuss a thought-provoking report published in the European Journal of Human Genetics that tackles a crucial yet underexplored question: what is the actual value of large-scale national genomic programmes for society?Led by Ruth Horn, Angeliki Kerasidou, Jennifer Merchant and the UK-FR+GENE consortium, this multidisciplinary workshop

en-us

00:19:34

️ 13: Decoding De Novo: A Multigenerational Benchmark...

Base by Base ·

2025/04/25

️ Episode 13: Decoding De Novo: A Multigenerational Benchmark for Human Mutation Rates In this episode of Base by Base, we explore a monumental study published in Nature that redefines how we understand human de novo mutation (DNM) rates. By sequencing 28 individuals across four generations from the CEPH 1463 family with five complementary technologies, this study delivers the most complete pedigree reference to date.Led by Porubsky and colleagues, the

en-us

00:13:45

🎙️ Episode 13: Decoding De Novo: A Multigenerational...

Base by Base ·

2025/04/25

🎙️ Episode 13: Decoding De Novo: A Multigenerational Benchmark for Human Mutation Rates🧬 In this episode of Base by Base, we explore a monumental study published in Nature that redefines how we understand human de novo mutation (DNM) rates. By sequencing 28 individuals across four generations from the CEPH 1463 family with five complementary technologies, this study delivers the most complete pedigree reference to date.Led by Porubsky and colleagues, the research team used a mix of short- and

en-us

00:16:28

️ 12: Repairing the Blueprint: Insights from MUTYH...

Base by Base ·

2025/04/19

️ Episode 12: Repairing the Blueprint: Insights from MUTYH Structure and Cancer-Associated Variants In this episode of Base by Base, we explore a pivotal study published in Nature Communications that reveals the structural and functional secrets of the human MUTYH DNA glycosylase. This landmark work provides the first crystal structure of human MUTYH bound to DNA, illuminating how its [4Fe-4S] cluster cofactor allosterically connects to the catalytic site

en-us

00:17:33

🎙️ Episode 12: Repairing the Blueprint: Insights from...

Base by Base ·

2025/04/19

🎙️ Episode 12: Repairing the Blueprint: Insights from MUTYH Structure and Cancer-Associated Variants🧬 In this episode of Base by Base, we explore a pivotal study published in Nature Communications that reveals the structural and functional secrets of the human MUTYH DNA glycosylase. This landmark work provides the first crystal structure of human MUTYH bound to DNA, illuminating how its [4Fe-4S] cluster cofactor allosterically connects to the catalytic site — a critical feature for maintaining

en-us

00:10:39

🎙️ Episode 11: Targeting Mitochondria: A Therapeutic...

Base by Base ·

2025/04/19

🎙️ Episode 11: Targeting Mitochondria: A Therapeutic Strategy for Dnmt3a-Mutant Clonal Hematopoiesis🧬 In this episode of Base by Base, we dive into a compelling study published in Nature Communications that reveals a novel therapeutic vulnerability in clonal hematopoiesis driven by DNMT3A mutations. The research identifies elevated mitochondrial membrane potential (Δψm) as a selective weakness in mutant hematopoietic stem and progenitor cells (HSPCs), paving the way for targeted interventions.Led

en-us

00:19:15

️ 11: Targeting Mitochondria: A Therapeutic Strategy...

Base by Base ·

2025/04/19

️ Episode 11: Targeting Mitochondria: A Therapeutic Strategy for Dnmt3a-Mutant Clonal Hematopoiesis In this episode of Base by Base, we dive into a compelling study published in Nature Communications that reveals a novel therapeutic vulnerability in clonal hematopoiesis driven by DNMT3A mutations. The research identifies elevated mitochondrial membrane potential (Δψm) as a selective weakness in mutant hematopoietic stem and progenitor cells (HSPCs),

en-us

00:14:51

🎙️ Episode 10: Targeting the Genome: Guidelines for...

Base by Base ·

2025/04/18

🎙️ Episode 10: Targeting the Genome: Guidelines for Antisense Oligonucleotide Therapy Eligibility🧬 In this episode of Base by Base, we explore a transformative study published in The American Journal of Human Genetics that introduces the N1C VARIANT guidelines — a consensus framework for evaluating the eligibility of pathogenic DNA variants for antisense oligonucleotide (ASO) therapies. This pioneering effort addresses a critical gap for rare genetic diseases, where individualized treatments are

en-us

00:19:38

️ 10: Targeting the Genome: Guidelines for Antisense...

Base by Base ·

2025/04/18

️ Episode 10: Targeting the Genome: Guidelines for Antisense Oligonucleotide Therapy Eligibility In this episode of Base by Base, we explore a transformative study published in The American Journal of Human Genetics that introduces the N1C VARIANT guidelines — a consensus framework for evaluating the eligibility of pathogenic DNA variants for antisense oligonucleotide (ASO) therapies. This pioneering effort addresses a critical gap for rare genetic

en-us

00:18:45

🎙️ Episode 9: Unraveling Complexity: A Bayesian...

Base by Base ·

2025/04/18

🎙️ Episode 9: Unraveling Complexity: A Bayesian Graphical Model for Joint Mendelian Randomization🧬 In this episode of Base by Base, we explore a groundbreaking study published in The American Journal of Human Genetics that introduces MrDAG, a Bayesian causal graphical model designed to jointly analyze multiple exposures and outcomes in Mendelian randomization (MR) studies. This innovative approach overcomes the limitations of traditional MR methods, offering a deeper understanding of complex

en-us

00:20:34

️ 9: Unraveling Complexity: A Bayesian Graphical...

Base by Base ·

2025/04/18

️ Episode 9: Unraveling Complexity: A Bayesian Graphical Model for Joint Mendelian Randomization In this episode of Base by Base, we explore a groundbreaking study published in The American Journal of Human Genetics that introduces MrDAG, a Bayesian causal graphical model designed to jointly analyze multiple exposures and outcomes in Mendelian randomization (MR) studies. This innovative approach overcomes the limitations of traditional MR methods,

en-us

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

00:20:37

🎙️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

00:26:15

️ 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

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

en-us

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

00:17:11

️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

467 results

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