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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

00:17:12

🎙️ 53: Weighing the Evidence — A Systematic Review of...

Base by Base ·

2025/06/23

🎙️ Episode 53: Weighing the Evidence — A Systematic Review of Polygenic Risk Score Economic Evaluations🧬 In this episode of Base by Base, we explore the systematic review by Siena et al. (2025) in The American Journal of Human Genetics, which examines the methods used to quantify the costs and benefits of polygenic risk–based strategies in clinical practice. The authors conducted a comprehensive search of PubMed, Web of Science, and Scopus, identifying 24 full economic evaluations—predominantly

en-us

00:16:43

️ 52: Human Genetic Variation Reveals FCRL3 as a...

Base by Base ·

2025/06/22

️ Episode 52: Human Genetic Variation Reveals FCRL3 as a Lymphocyte Receptor for Yersinia pestis In this episode of Base by Base, we dive into a cellular genome-wide association study (GWAS) of nearly 1,000 lymphoblastoid cell lines published by Keener et al. (2025) in Cell Genomics, which uncovers Fc receptor-like 3 (FCRL3) as a previously unrecognized surface receptor that mediates attachment and invasion of Yersinia pestis into human B cells. Employing

en-us

00:16:42

🎙️ 52: Human Genetic Variation Reveals FCRL3 as a...

Base by Base ·

2025/06/22

🎙️ Episode 52: Human Genetic Variation Reveals FCRL3 as a Lymphocyte Receptor for Yersinia pestis🧬 In this episode of Base by Base, we dive into a cellular genome-wide association study (GWAS) of nearly 1,000 lymphoblastoid cell lines published by Keener et al. (2025) in Cell Genomics, which uncovers Fc receptor-like 3 (FCRL3) as a previously unrecognized surface receptor that mediates attachment and invasion of Yersinia pestis into human B cells. Employing the Hi-HOST platform, the authors

en-us

00:17:37

🎙️ 51: Diagnosing the Undiagnosed — A...

Base by Base ·

2025/06/21

🎙️ Episode 51: Diagnosing the Undiagnosed — A Phenotype-Driven Pipeline for Mitochondrial DNA Discovery🧬 In this episode of Base by Base, we dive into a powerful phenotype-guided strategy to uncover mitochondrial DNA (mtDNA) diseases in large-scale rare disease cohorts. Ratnaike et al. (2025), publishing in The American Journal of Human Genetics, present the results of a systematic reanalysis of 10,157 exome and genome datasets from the European Solve-RD project, applying a semi-automated pipeline

en-us

00:17:38

️ 51: Diagnosing the Undiagnosed — A Phenotype-Driven...

Base by Base ·

2025/06/21

️ Episode 51: Diagnosing the Undiagnosed — A Phenotype-Driven Pipeline for Mitochondrial DNA Discovery In this episode of Base by Base, we dive into a powerful phenotype-guided strategy to uncover mitochondrial DNA (mtDNA) diseases in large-scale rare disease cohorts. Ratnaike et al. (2025), publishing in The American Journal of Human Genetics, present the results of a systematic reanalysis of 10,157 exome and genome datasets from the European Solve-RD

en-us

00:17:57

️ 50: The Microbiome for Clinicians — Bridging...

Base by Base ·

2025/06/19

️ Episode 50: The Microbiome for Clinicians — Bridging Research and Practice In this episode of Base by Base, we explore a Perspective article by Porcari et al. (2025) in Cell titled “The microbiome for clinicians,” which examines the current disconnect between microbiome research and its implementation in medical practice, and outlines a strategic roadmap to overcome the barriers preventing its clinical adoption. Key Highlights:The authors categorize

en-us

00:17:56

🎙️ 50: The Microbiome for Clinicians — Bridging...

Base by Base ·

2025/06/19

🎙️ Episode 50: The Microbiome for Clinicians — Bridging Research and Practice🧬 In this episode of Base by Base, we explore a Perspective article by Porcari et al. (2025) in Cell titled “The microbiome for clinicians,” which examines the current disconnect between microbiome research and its implementation in medical practice, and outlines a strategic roadmap to overcome the barriers preventing its clinical adoption. 🔍 Key Highlights:The authors categorize translational barriers into biological

en-us

00:22:58

🎙️ 49: Chitin as a Reservoir for Horizontal Gene...

Base by Base ·

2025/06/18

🎙️ Episode 49: Chitin as a Reservoir for Horizontal Gene Transfer — Environmental DNA Adsorption and Natural Transformation in Vibrio cholerae🧬 In this episode of Base by Base, we explore the study by Holt et al. (2025) in Proceedings of the National Academy of Sciences, which uncovers how extracellular DNA from the marine environment binds to chitin surfaces and becomes accessible to Vibrio cholerae for natural transformation. Through the use of microfluidic flow chambers mimicking realistic

en-us

00:22:59

️ 49: Chitin as a Reservoir for Horizontal Gene...

Base by Base ·

2025/06/18

️ Episode 49: Chitin as a Reservoir for Horizontal Gene Transfer — Environmental DNA Adsorption and Natural Transformation in Vibrio cholerae In this episode of Base by Base, we explore the study by Holt et al. (2025) in Proceedings of the National Academy of Sciences, which uncovers how extracellular DNA from the marine environment binds to chitin surfaces and becomes accessible to Vibrio cholerae for natural transformation. Through the use of

en-us

00:16:10

🎙️ 48: Mainstreaming Genetic Testing — A Conceptual...

Base by Base ·

2025/06/16

🎙️ Episode 48: Mainstreaming Genetic Testing — A Conceptual Framework for Expanding Genomic Medicine🧬 In this episode of Base by Base, we explore an important policy and practice shift presented by Mackley et al. (2025) in Genetics in Medicine. The authors propose a conceptual framework for the mainstreaming of clinical genetic testing, addressing the increasing demand for genomic services across medicine and the limited growth of the clinical genetics workforce. By redefining how genetic testing

en-us

00:16:11

️ 48: Mainstreaming Genetic Testing — A Conceptual...

Base by Base ·

2025/06/16

️ Episode 48: Mainstreaming Genetic Testing — A Conceptual Framework for Expanding Genomic Medicine In this episode of Base by Base, we explore an important policy and practice shift presented by Mackley et al. (2025) in Genetics in Medicine. The authors propose a conceptual framework for the mainstreaming of clinical genetic testing, addressing the increasing demand for genomic services across medicine and the limited growth of the clinical genetics

en-us

00:22:38

️ 47: Selectivity and Promiscuity — Decoding the...

Base by Base ·

2025/06/16

️ Episode 47: Selectivity and Promiscuity — Decoding the Human Chemokine-GPCR Network In this episode of Base by Base, we explore a systems-level framework unveiled by Kleist et al. (2025) in Cell, which dissects how selectivity and promiscuity arise in the intricate network of human chemokine-GPCR interactions. By combining structural biology, evolutionary conservation, and machine learning, the study reveals the molecular grammar that encodes receptor

en-us

00:22:37

🎙️ 47: Selectivity and Promiscuity — Decoding the...

Base by Base ·

2025/06/16

🎙️ Episode 47: Selectivity and Promiscuity — Decoding the Human Chemokine-GPCR Network🧬 In this episode of Base by Base, we explore a systems-level framework unveiled by Kleist et al. (2025) in Cell, which dissects how selectivity and promiscuity arise in the intricate network of human chemokine-GPCR interactions. By combining structural biology, evolutionary conservation, and machine learning, the study reveals the molecular grammar that encodes receptor specificity and versatility across immune

en-us

00:20:33

🎙️ 46: Pan-Epitranscriptomic Control — How tRNA and...

Base by Base ·

2025/06/14

🎙️ Episode 46: Pan-Epitranscriptomic Control — How tRNA and m6A Interact to Regulate mRNA Decay🧬 In this episode of Base by Base, we delve into a landmark study by Linder et al. (2025), published in Cell, which uncovers a molecular interaction between two layers of RNA modifications — m6A in mRNA and mcm5s2U in tRNA — that tunes mRNA stability in a codon-specific and translation-dependent manner. The authors present a compelling model where tRNA modifications actively influence the functional

en-us

00:20:34

️ 46: Pan-Epitranscriptomic Control — How tRNA and...

Base by Base ·

2025/06/14

️ Episode 46: Pan-Epitranscriptomic Control — How tRNA and m6A Interact to Regulate mRNA Decay In this episode of Base by Base, we delve into a landmark study by Linder et al. (2025), published in Cell, which uncovers a molecular interaction between two layers of RNA modifications — m6A in mRNA and mcm5s2U in tRNA — that tunes mRNA stability in a codon-specific and translation-dependent manner. The authors present a compelling model where tRNA

en-us

00:20:52

🎙️ 45: Probing Nucleolar Mechanics — RNA-Dependent...

Base by Base ·

2025/06/12

🎙️ Episode 45: Probing Nucleolar Mechanics — RNA-Dependent Viscoelasticity of Nucleolar Subcompartments🧬 In this episode of Base por Base, we delve into a groundbreaking study by Cheng et al. (2025) in PNAS that employs micropipette aspiration to directly measure the material properties of nucleoli within living Xenopus laevis oocytes. By aspirating these large, transcriptionally active condensates, the authors distinguish the Newtonian, liquid-like behavior of the granular component (GC) from the

en-us

00:20:53

️ 45: Probing Nucleolar Mechanics — RNA-Dependent...

Base by Base ·

2025/06/12

️ Episode 45: Probing Nucleolar Mechanics — RNA-Dependent Viscoelasticity of Nucleolar Subcompartments In this episode of Base por Base, we delve into a groundbreaking study by Cheng et al. (2025) in PNAS that employs micropipette aspiration to directly measure the material properties of nucleoli within living Xenopus laevis oocytes. By aspirating these large, transcriptionally active condensates, the authors distinguish the Newtonian, liquid-like

en-us

00:19:00

🎙️ 44: Proofreading Precision — Unveiling the Cryo-EM...

Base by Base ·

2025/06/12

🎙️ Episode 44: Proofreading Precision — Unveiling the Cryo-EM Mechanism of Human DNA Polymerase ε Holoenzyme🧬 In this episode of Base per Base, we delve into a groundbreaking study by Wang et al. (2025) in PNAS that illuminates the molecular choreography of the human leading-strand DNA polymerase ε (Polε) holoenzyme during mismatch proofreading. By combining in situ mismatch generation with high-resolution cryo-electron microscopy, the research captures authentic intermediates of the Polε–PCNA

en-us

00:19:02

️ 44: Proofreading Precision — Unveiling the Cryo-EM...

Base by Base ·

2025/06/12

️ Episode 44: Proofreading Precision — Unveiling the Cryo-EM Mechanism of Human DNA Polymerase ε Holoenzyme In this episode of Base per Base, we delve into a groundbreaking study by Wang et al. (2025) in PNAS that illuminates the molecular choreography of the human leading-strand DNA polymerase ε (Polε) holoenzyme during mismatch proofreading. By combining in situ mismatch generation with high-resolution cryo-electron microscopy, the research captures

en-us

00:19:32

🎙️ 43: Personalized Molecular Signatures of Insulin...

Base by Base ·

2025/06/11

🎙️ Episode 43: Personalized Molecular Signatures of Insulin Resistance and Type 2 Diabetes🧬 In this episode of Base by Base, we explore the groundbreaking work by Kjærgaard et al. (2025) in Cell, where cutting-edge proteomics and phosphoproteomics were applied to skeletal muscle biopsies from over 120 participants with normal glucose tolerance or type 2 diabetes. By combining hyperinsulinemic-euglycemic clamps with deep in vivo phenotyping, the study maps fasting and insulin-stimulated protein and

en-us

465 results

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