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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

00:19:43

🎙️ 72: The POC5 Syndrome — A Ciliopathy Linking...

Base by Base ·

2025/07/11

🎙️ Episode 72: The POC5 Syndrome — A Ciliopathy Linking Retina, Muscles and Metabolism🧬 In this episode of Base by Base, we explore a multi-institutional study by Vulto-van Silfhout et al. (2025), published in Genetics in Medicine, that uncovers a novel syndromic ciliopathy caused by bi-allelic loss-of-function variants in the POC5 gene. The research describes twelve families with a rare constellation of clinical features—including rod-cone dystrophy, severe insulin-resistant diabetes, partial

en-us

00:25:16

️ 71: ELFN1 Deficiency Disorder — Mechanistic Basis...

Base by Base ·

2025/07/10

️ Episode 71: ELFN1 Deficiency Disorder — Mechanistic Basis and Phenotypic Spectrum of a Neurodevelopmental Disorder with Epilepsy In this episode of Base by Base, we dive into the recent pre-proof study by Dore et al. (2025) in Genetics in Medicine, which defines a new autosomal recessive neurodevelopmental syndrome caused by biallelic variants in the synaptic adhesion molecule ELFN1. Through detailed clinical phenotyping of fourteen patients, molecular

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00:25:15

🎙️ 71: ELFN1 Deficiency Disorder — Mechanistic Basis...

Base by Base ·

2025/07/10

🎙️ Episode 71: ELFN1 Deficiency Disorder — Mechanistic Basis and Phenotypic Spectrum of a Neurodevelopmental Disorder with Epilepsy🧬 In this episode of Base by Base, we dive into the recent pre-proof study by Dore et al. (2025) in Genetics in Medicine, which defines a new autosomal recessive neurodevelopmental syndrome caused by biallelic variants in the synaptic adhesion molecule ELFN1. Through detailed clinical phenotyping of fourteen patients, molecular assays in human cells, and in vivo

en-us

00:19:09

🎙️ 70: Scalable Screening of Ternary-Code DNA...

Base by Base ·

2025/07/09

🎙️ Episode 70: Scalable Screening of Ternary-Code DNA Methylation Dynamics Associated with Human Traits🧬 In this episode of Base por Base, we delve into a methodological breakthrough reported by Goldberg et al. (2025) in Cell Genomics, where the authors introduce the methylation screening array (MSA) — a next-generation Infinium BeadChip designed for large-scale, high-throughput profiling of DNA cytosine modifications across human populations. By integrating curated trait-associated loci from

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00:19:10

️ 70: Scalable Screening of Ternary-Code DNA...

Base by Base ·

2025/07/09

️ Episode 70: Scalable Screening of Ternary-Code DNA Methylation Dynamics Associated with Human Traits In this episode of Base por Base, we delve into a methodological breakthrough reported by Goldberg et al. (2025) in Cell Genomics, where the authors introduce the methylation screening array (MSA) — a next-generation Infinium BeadChip designed for large-scale, high-throughput profiling of DNA cytosine modifications across human populations. By

en-us

00:16:15

️ 69: Synthetic Dosage Lethality of PLK1 — Targetable...

Base by Base ·

2025/07/08

️ Episode 69: Synthetic Dosage Lethality of PLK1 — Targetable Vulnerabilities in PLK1-Overexpressing Cancers In this episode of Base por Base, we delve into a comprehensive study by Cunningham et al. (2025) in Cell Genomics that harnesses genome-wide synthetic dosage lethality (SDL) screening to uncover novel therapeutic targets in cancers driven by Polo-like kinase 1 (PLK1). By integrating pooled shRNA and CRISPR-Cas9 screens in both in vitro and in vivo

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00:16:14

🎙️ 69: Synthetic Dosage Lethality of PLK1 —...

Base by Base ·

2025/07/08

🎙️ Episode 69: Synthetic Dosage Lethality of PLK1 — Targetable Vulnerabilities in PLK1-Overexpressing Cancers🧬 In this episode of Base por Base, we delve into a comprehensive study by Cunningham et al. (2025) in Cell Genomics that harnesses genome-wide synthetic dosage lethality (SDL) screening to uncover novel therapeutic targets in cancers driven by Polo-like kinase 1 (PLK1). By integrating pooled shRNA and CRISPR-Cas9 screens in both in vitro and in vivo patient-derived xenograft models,

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00:16:03

🎙️ 68: Indels Empower Antiviral Proteins to Achieve...

Base by Base ·

2025/07/07

🎙️ Episode 68: Indels Empower Antiviral Proteins to Achieve Functional Novelty Beyond Missense Mutations🧬 In this episode of Base by Base, we dive into pioneering work by Tenthorey et al. (2025) in Cell Genomics that uncovers how insertion and deletion mutations—indels—can unlock evolutionary innovations in the antiviral protein TRIM5α. By applying both deep mutational scanning and a novel deep indel scanning approach to the v1 loop of human TRIM5α, the authors reveal that while no

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00:16:04

️ 68: Indels Empower Antiviral Proteins to Achieve...

Base by Base ·

2025/07/07

️ Episode 68: Indels Empower Antiviral Proteins to Achieve Functional Novelty Beyond Missense Mutations In this episode of Base by Base, we dive into pioneering work by Tenthorey et al. (2025) in Cell Genomics that uncovers how insertion and deletion mutations—indels—can unlock evolutionary innovations in the antiviral protein TRIM5α. By applying both deep mutational scanning and a novel deep indel scanning approach to the v1 loop of human TRIM5α, the

en-us

00:14:47

️ 67: Smarter Signals — How Multimodal AI Boosts...

Base by Base ·

2025/07/06

️ Episode 67: Smarter Signals — How Multimodal AI Boosts Genetic Prediction of Heart Disease In this episode of Base por Base, we delve into a major advancement in the intersection of artificial intelligence and cardiovascular genomics. A study by Zhou et al. (2025), published in The American Journal of Human Genetics, introduces M-REGLE (Multimodal Representation Learning for Genetic Discovery on Low-dimensional Embeddings), a novel AI framework designed

en-us

00:14:46

🎙️ 67: Smarter Signals — How Multimodal AI Boosts...

Base by Base ·

2025/07/06

🎙️ Episode 67: Smarter Signals — How Multimodal AI Boosts Genetic Prediction of Heart Disease🧬 In this episode of Base por Base, we delve into a major advancement in the intersection of artificial intelligence and cardiovascular genomics. A study by Zhou et al. (2025), published in The American Journal of Human Genetics, introduces M-REGLE (Multimodal Representation Learning for Genetic Discovery on Low-dimensional Embeddings), a novel AI framework designed to enhance genome-wide association

en-us

00:20:01

🎙️ 66: Mainstreaming Clinical Genetic Testing — A...

Base by Base ·

2025/07/05

🎙️ Episode 66: Mainstreaming Clinical Genetic Testing — A Conceptual Framework🧬 In this episode of Base por Base, we delve into the consensus-based framework introduced by Mackley et al. (2025) in Genetics in Medicine, which proposes a structured approach to integrate genetic testing into non-geneticist clinical practice to meet growing demand amid a stable genetics workforce .🔍 Study Highlights:The authors convened a focus group of thirty-five experts representing twenty clinical genetics

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00:20:02

️ 66: Mainstreaming Clinical Genetic Testing — A...

Base by Base ·

2025/07/05

️ Episode 66: Mainstreaming Clinical Genetic Testing — A Conceptual Framework In this episode of Base por Base, we delve into the consensus-based framework introduced by Mackley et al. (2025) in Genetics in Medicine, which proposes a structured approach to integrate genetic testing into non-geneticist clinical practice to meet growing demand amid a stable genetics workforce . Study Highlights:The authors convened a focus group of thirty-five experts

en-us

00:18:37

️ 65: Uncovering Hidden Splice Defects — Genome...

Base by Base ·

2025/07/04

️ Episode 65: Uncovering Hidden Splice Defects — Genome Sequencing and Group-Enrichment in Marfan Syndrome In this episode of Base por Base, we delve into a groundbreaking study by Walker et al. (2025) in Genetics in Medicine that leverages whole-genome sequencing from the 100,000 Genomes Project alongside advanced in silico prediction and targeted RNA assays to reveal the contribution of non-canonical FBN1 splice variants to undiagnosed Marfan syndrome

en-us

00:18:36

🎙️ 65: Uncovering Hidden Splice Defects — Genome...

Base by Base ·

2025/07/04

🎙️ Episode 65: Uncovering Hidden Splice Defects — Genome Sequencing and Group-Enrichment in Marfan Syndrome🧬 In this episode of Base por Base, we delve into a groundbreaking study by Walker et al. (2025) in Genetics in Medicine that leverages whole-genome sequencing from the 100,000 Genomes Project alongside advanced in silico prediction and targeted RNA assays to reveal the contribution of non-canonical FBN1 splice variants to undiagnosed Marfan syndrome.🔍 Key Highlights of the Study:The authors

en-us

00:23:10

️ 64: Pisces — A Multi-Modal Framework for Predicting...

Base by Base ·

2025/07/03

️ Episode 64: Pisces — A Multi-Modal Framework for Predicting Drug Combination Synergy In this episode of Base by Base, we delve into a groundbreaking methodological advance published by Xu et al. (2025) in Cell Genomics, which introduces Pisces, a novel machine-learning framework that overcomes data sparsity in drug combination studies by generating multiple modality-specific views for each drug pair. By projecting eight complementary data

en-us

00:23:09

🎙️ 64: Pisces — A Multi-Modal Framework for...

Base by Base ·

2025/07/03

🎙️ Episode 64: Pisces — A Multi-Modal Framework for Predicting Drug Combination Synergy🧬 In this episode of Base by Base, we delve into a groundbreaking methodological advance published by Xu et al. (2025) in Cell Genomics, which introduces Pisces, a novel machine-learning framework that overcomes data sparsity in drug combination studies by generating multiple modality-specific views for each drug pair. By projecting eight complementary data modalities—ranging from molecular structures and SMILES

en-us

00:23:09

🎙️ 63: Sampling Scale Matters — A Spatial Model for...

Base by Base ·

2025/07/02

🎙️ Episode 63: Sampling Scale Matters — A Spatial Model for Rare Variant Discovery in Biobank-Scale Datasets🧬 In this episode of Base by Base, we delve into a methodological advance by Steiner et al. (2025) published in PNAS that introduces a spatial branching process framework to investigate how the geographic breadth of sampling influences the discovery and allele frequency spectrum of rare, deleterious genetic variants in large sequencing cohorts.🔍 Study highlights: The authors show

en-us

00:23:10

️ 63: Sampling Scale Matters — A Spatial Model for...

Base by Base ·

2025/07/02

️ Episode 63: Sampling Scale Matters — A Spatial Model for Rare Variant Discovery in Biobank-Scale Datasets In this episode of Base by Base, we delve into a methodological advance by Steiner et al. (2025) published in PNAS that introduces a spatial branching process framework to investigate how the geographic breadth of sampling influences the discovery and allele frequency spectrum of rare, deleterious genetic variants in large sequencing cohorts. Study

en-us

00:17:00

️ 62: Breaking Resistance — How BRCA2-Deficient...

Base by Base ·

2025/07/01

️ Episode 62: Breaking Resistance — How BRCA2-Deficient Tumors Escape PARP Inhibition Without Reversion Mutations In this episode of Base by Base, we explore a study by Pappas et al. (2025), published in PNAS, that sheds light on a major challenge in precision oncology: why some BRCA2-mutant prostate cancers fail to respond to PARP inhibitors even in the absence of reversion mutations. Using genome-wide CRISPR screens in BRCA2-deficient murine prostate

en-us

463 results

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