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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

00:19:26

🎙️ 86: Variable Penetrance in Monogenic Traits — How...

Base by Base ·

2025/07/25

🎙️ Episode 86: Variable Penetrance in Monogenic Traits — How Genetic Background Modulates Disease Severity🧬 In this episode of PaperCast Base by Base, we explore a landmark study that unravels why carriers of the same pathogenic variant often present with very different clinical outcomes, providing new insights into gene–disease association, variant interpretation, and the interplay between rare and common genetic effects.🔍 Study Highlights:The researchers analyzed exome and clinical data from

en-us

00:19:27

️ 86: Variable Penetrance in Monogenic Traits — How...

Base by Base ·

2025/07/25

️ Episode 86: Variable Penetrance in Monogenic Traits — How Genetic Background Modulates Disease Severity In this episode of PaperCast Base by Base, we explore a landmark study that unravels why carriers of the same pathogenic variant often present with very different clinical outcomes, providing new insights into gene–disease association, variant interpretation, and the interplay between rare and common genetic effects. Study Highlights:The researchers

en-us

00:23:15

️ 85: Genomic landscape of virus-associated cancers

Base by Base ·

2025/07/24

️ Episode 85: Genomic landscape of virus-associated cancers In this episode of PaperCast Base by Base, we explore the comparative genomic analysis of virus-positive and virus-negative tumors across nine cancer types linked to five oncogenic viruses uncovering epidemiological patterns, mutational signatures, and therapeutic implications. Study Highlights:The authors aggregated genomic data from 1,971 tumors spanning nine virus-associated cancers and

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00:23:14

🎙️ 85: Genomic landscape of virus-associated cancers

Base by Base ·

2025/07/24

🎙️ Episode 85: Genomic landscape of virus-associated cancers🧬 In this episode of PaperCast Base by Base, we explore the comparative genomic analysis of virus-positive and virus-negative tumors across nine cancer types linked to five oncogenic viruses uncovering epidemiological patterns, mutational signatures, and therapeutic implications.🔍 Study Highlights:The authors aggregated genomic data from 1,971 tumors spanning nine virus-associated cancers and performed comprehensive analyses of mutation

en-us

00:17:11

🎙️ 84: Variants in NR6A1 cause a novel...

Base by Base ·

2025/07/23

🎙️ Episode 84: Variants in NR6A1 cause a novel oculo-vertebral-renal syndrome🧬 In this episode of PaperCast Base by Base, we explore the discovery of rare variants in the orphan nuclear receptor gene NR6A1 as the genetic cause of a newly described autosomal dominant oculo-vertebral-renal (OVR) syndrome characterized by colobomatous microphthalmia, vertebral anomalies, and congenital kidney abnormalities.🔍 Study Highlights:We performed genome sequencing in six independent families affected by

en-us

00:17:12

️ 84: Variants in NR6A1 cause a novel...

Base by Base ·

2025/07/23

️ Episode 84: Variants in NR6A1 cause a novel oculo-vertebral-renal syndrome In this episode of PaperCast Base by Base, we explore the discovery of rare variants in the orphan nuclear receptor gene NR6A1 as the genetic cause of a newly described autosomal dominant oculo-vertebral-renal (OVR) syndrome characterized by colobomatous microphthalmia, vertebral anomalies, and congenital kidney abnormalities. Study Highlights:We performed genome sequencing in

en-us

00:25:46

🎙️ 83: Single-cell Analysis of dup15q Syndrome...

Base by Base ·

2025/07/22

🎙️ Episode 83: Single-cell Analysis of dup15q Syndrome Illuminates Autism Mechanisms🧬 In this episode of PaperCast Base by Base, we explore how single-cell RNA sequencing of patient-derived cortical organoids and postmortem brain tissue uncovers developmental and postnatal molecular changes in duplication 15q syndrome, a major genetic cause of autism.🔍 Study Highlights:The authors performed single-cell and single-nucleus transcriptomic profiling on cortical organoids and postmortem cortical

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00:25:47

️ 83: Single-cell Analysis of dup15q Syndrome...

Base by Base ·

2025/07/22

️ Episode 83: Single-cell Analysis of dup15q Syndrome Illuminates Autism Mechanisms In this episode of PaperCast Base by Base, we explore how single-cell RNA sequencing of patient-derived cortical organoids and postmortem brain tissue uncovers developmental and postnatal molecular changes in duplication 15q syndrome, a major genetic cause of autism. Study Highlights:The authors performed single-cell and single-nucleus transcriptomic profiling on cortical

en-us

00:19:07

️ 82: JAK2 Inhibition Drives RAS Pathway Mutant...

Base by Base ·

2025/07/21

️ Episode 82: JAK2 Inhibition Drives RAS Pathway Mutant Clonal Selection in Myeloproliferative Neoplasms In this episode of PaperCast Base by Base, we explore how JAK2 inhibition by ruxolitinib reshapes clonal dynamics in myelofibrosis by mediating the expansion of RAS pathway-mutated clones in myeloproliferative neoplasms. Study Highlights:We conducted a longitudinal molecular analysis of myelofibrosis patients treated with ruxolitinib and observed a

en-us

00:19:06

🎙️ 82: JAK2 Inhibition Drives RAS Pathway Mutant...

Base by Base ·

2025/07/21

🎙️ Episode 82: JAK2 Inhibition Drives RAS Pathway Mutant Clonal Selection in Myeloproliferative Neoplasms🧬 In this episode of PaperCast Base by Base, we explore how JAK2 inhibition by ruxolitinib reshapes clonal dynamics in myelofibrosis by mediating the expansion of RAS pathway-mutated clones in myeloproliferative neoplasms.🔍 Study Highlights:We conducted a longitudinal molecular analysis of myelofibrosis patients treated with ruxolitinib and observed a marked accumulation of RAS pathway

en-us

00:21:09

🎙️ 81: Clinical Impact of Pharmacogenetic Risk...

Base by Base ·

2025/07/20

🎙️ Episode 81: Clinical Impact of Pharmacogenetic Risk Variants in a Large Chinese Cohort🧬 In this episode of PaperCast Base by Base, we explore a retrospective analysis of genetic and clinical data from the Taiwan Precision Medicine Initiative cohort to assess how actionable pharmacogenetic variants influence drug response and adverse events in nearly half a million Han Chinese individuals.🔍 Study Highlights:We performed a comprehensive survey of clinically actionable variants in 19

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00:21:10

️ 81: Clinical Impact of Pharmacogenetic Risk...

Base by Base ·

2025/07/20

️ Episode 81: Clinical Impact of Pharmacogenetic Risk Variants in a Large Chinese Cohort In this episode of PaperCast Base by Base, we explore a retrospective analysis of genetic and clinical data from the Taiwan Precision Medicine Initiative cohort to assess how actionable pharmacogenetic variants influence drug response and adverse events in nearly half a million Han Chinese individuals. Study Highlights:We performed a comprehensive survey of clinically

en-us

00:16:14

🎙️ 80: Genomic Forecasting of Postoperative Outcomes...

Base by Base ·

2025/07/19

🎙️ Episode 80: Genomic Forecasting of Postoperative Outcomes in Congenital Cardiac Surgery🧬 In this episode of PaperCast Base by Base, we explore the use of artificial intelligence–driven genome sequencing to predict clinical outcomes following surgery for congenital heart defects.🔍 Study Highlights:The authors conducted a prospective observational cohort study of 2,253 patients from the Pediatric Cardiac Genomics Consortium, integrating whole exome sequencing with pre- and post-operative

en-us

00:16:15

️ 80: Genomic Forecasting of Postoperative Outcomes...

Base by Base ·

2025/07/19

️ Episode 80: Genomic Forecasting of Postoperative Outcomes in Congenital Cardiac Surgery In this episode of PaperCast Base by Base, we explore the use of artificial intelligence–driven genome sequencing to predict clinical outcomes following surgery for congenital heart defects. Study Highlights:The authors conducted a prospective observational cohort study of 2,253 patients from the Pediatric Cardiac Genomics Consortium, integrating whole exome

en-us

00:17:17

️ 79: Cross-Population GWAS and Proteomic Insights in...

Base by Base ·

2025/07/18

️ Episode 79: Cross-Population GWAS and Proteomic Insights in Atrial Fibrillation In this episode of PaperCast Base by Base, we explore a cross-population genome-wide meta-analysis combined with proteomic profiling to enhance risk prediction and uncover molecular mechanisms underlying atrial fibrillation. Study Highlights:The authors conducted a meta-analysis of over 168,000 atrial fibrillation cases across diverse ancestries and identified 525

en-us

00:17:16

🎙️ 79: Cross-Population GWAS and Proteomic Insights...

Base by Base ·

2025/07/18

🎙️ Episode 79: Cross-Population GWAS and Proteomic Insights in Atrial Fibrillation🧬 In this episode of PaperCast Base by Base, we explore a cross-population genome-wide meta-analysis combined with proteomic profiling to enhance risk prediction and uncover molecular mechanisms underlying atrial fibrillation.🔍 Study Highlights:The authors conducted a meta-analysis of over 168,000 atrial fibrillation cases across diverse ancestries and identified 525 genome-wide significant loci. They integrated

en-us

00:14:52

🎙️ 78: Interactions between TTYH2 and APOE Facilitate...

Base by Base ·

2025/07/17

🎙️ Episode 78: Interactions between TTYH2 and APOE Facilitate Endosomal Lipid Transfer🧬 In this episode of PaperCast Base by Base, we explore the discovery and characterization of the interaction between the membrane protein TTYH2 and apolipoprotein E (APOE), and how this partnership drives lipid transfer within endosomal compartments.🔍 Study Highlights:Pull-down assays and mass spectrometry identified APOE as a binding partner of human TTYH2 in endosomes, and subcellular fractionation confirmed

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00:14:53

️ 78: Interactions between TTYH2 and APOE Facilitate...

Base by Base ·

2025/07/17

️ Episode 78: Interactions between TTYH2 and APOE Facilitate Endosomal Lipid Transfer In this episode of PaperCast Base by Base, we explore the discovery and characterization of the interaction between the membrane protein TTYH2 and apolipoprotein E (APOE), and how this partnership drives lipid transfer within endosomal compartments. Study Highlights:Pull-down assays and mass spectrometry identified APOE as a binding partner of human TTYH2 in endosomes,

en-us

00:16:31

️ 77: Range Extender: Unlocking Long-Distance...

Base by Base ·

2025/07/16

️ Episode 77: Range Extender: Unlocking Long-Distance Enhancer Activity In this episode of PaperCast Base by Base, we explore the discovery and functional characterization of a novel cis-acting element, termed REX, that mediates megabase-scale enhancer–promoter interactions and enables remote gene activation during limb development. Study Highlights:The authors performed in vivo enhancer-replacement experiments at the mouse Shh locus to demonstrate that

en-us

00:16:30

🎙️ 77: Range Extender: Unlocking Long-Distance...

Base by Base ·

2025/07/16

🎙️ Episode 77: Range Extender: Unlocking Long-Distance Enhancer Activity🧬 In this episode of PaperCast Base by Base, we explore the discovery and functional characterization of a novel cis-acting element, termed REX, that mediates megabase-scale enhancer–promoter interactions and enables remote gene activation during limb development.🔍 Study Highlights:The authors performed in vivo enhancer-replacement experiments at the mouse Shh locus to demonstrate that bona fide short- and medium-range limb

en-us

452 results

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