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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

00:19:07

️ 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

00:21:10

️ 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

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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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00:16:14

🎙️ 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

00:17:16

🎙️ 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

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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

00:14:52

🎙️ 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

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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

00:13:22

️ 76: Whole-genome Ancestry of an Old Kingdom Egyptian

Base by Base ·

2025/07/15

️ Episode 76: Whole-genome Ancestry of an Old Kingdom Egyptian In this episode of PaperCast Base by Base, we explore the first 2× coverage whole-genome sequence recovered from a high-status individual of the Old Kingdom excavated at the Nuwayrat necropolis and examine the evidence for multi-regional ancestry during early Dynastic Egypt. Study Highlights:The research team extracted and authenticated ancient DNA from a pot-burial dating to 2855–2570 cal BCE

en-us

00:13:21

🎙️ 76: Whole-genome Ancestry of an Old Kingdom Egyptian

Base by Base ·

2025/07/15

🎙️ Episode 76: Whole-genome Ancestry of an Old Kingdom Egyptian🧬 In this episode of PaperCast Base by Base, we explore the first 2× coverage whole-genome sequence recovered from a high-status individual of the Old Kingdom excavated at the Nuwayrat necropolis and examine the evidence for multi-regional ancestry during early Dynastic Egypt.🔍 Study Highlights:The research team extracted and authenticated ancient DNA from a pot-burial dating to 2855–2570 cal BCE and generated a 2.02× coverage genome

en-us

00:14:55

🎙️ 75: Metabolic Shaping of Enzyme Structures Over...

Base by Base ·

2025/07/14

🎙️ Episode 75: Metabolic Shaping of Enzyme Structures Over 400 Million Years🧬 In this episode of PaperCast Base by Base, we explore a large-scale study published in Nature by Lemke et al. that leverages AlphaFold2-predicted and experimentally determined enzyme structures across 27 yeast species to reveal how metabolic properties have constrained and shaped enzyme structural evolution over 400 million years in the Saccharomycotina subphylum.🔍 Study Highlights:The authors analyzed over 11,000

en-us

00:14:56

️ 75: Metabolic Shaping of Enzyme Structures Over 400...

Base by Base ·

2025/07/14

️ Episode 75: Metabolic Shaping of Enzyme Structures Over 400 Million Years In this episode of PaperCast Base by Base, we explore a large-scale study published in Nature by Lemke et al. that leverages AlphaFold2-predicted and experimentally determined enzyme structures across 27 yeast species to reveal how metabolic properties have constrained and shaped enzyme structural evolution over 400 million years in the Saccharomycotina subphylum. Study

en-us

00:20:10

️ 74: Benchmarking T Cell Receptor–Epitope Predictors...

Base by Base ·

2025/07/13

️ Episode 74: Benchmarking T Cell Receptor–Epitope Predictors with ePytope-TCR In this episode of PaperCast Base by Base, we explore a unified computational framework that integrates and benchmarks 21 T cell receptor–epitope binding prediction models to evaluate their performance on viral epitope repertoires and deep mutational scans. Study Highlights:The authors developed ePytope-TCR, which standardizes 18 general and three categorical prediction methods

en-us

00:20:09

🎙️ 74: Benchmarking T Cell Receptor–Epitope...

Base by Base ·

2025/07/13

🎙️ Episode 74: Benchmarking T Cell Receptor–Epitope Predictors with ePytope-TCR🧬 In this episode of PaperCast Base by Base, we explore a unified computational framework that integrates and benchmarks 21 T cell receptor–epitope binding prediction models to evaluate their performance on viral epitope repertoires and deep mutational scans.🔍 Study Highlights:The authors developed ePytope-TCR, which standardizes 18 general and three categorical prediction methods into a single interoperable platform

en-us

00:15:55

️ 73: Assessing Family History in Dementia Genetics:...

Base by Base ·

2025/07/12

️ Episode 73: Assessing Family History in Dementia Genetics: Enhancing Diagnostic Yield In this episode of PaperCast Base by Base, we explore a study that evaluates how stratifying dementia patients by family history and age at onset can optimize the identification of diagnostically significant genetic variants in a clinical memory clinic setting, illustrating gene–disease association and variant interpretation through exome sequencing discoveries in

en-us

00:15:54

🎙️ 73: Assessing Family History in Dementia Genetics:...

Base by Base ·

2025/07/12

🎙️ Episode 73: Assessing Family History in Dementia Genetics: Enhancing Diagnostic Yield🧬 In this episode of PaperCast Base by Base, we explore a study that evaluates how stratifying dementia patients by family history and age at onset can optimize the identification of diagnostically significant genetic variants in a clinical memory clinic setting, illustrating gene–disease association and variant interpretation through exome sequencing discoveries in neurodegenerative disease.🔍 Study

en-us

00:19:44

️ 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,

en-us

463 results

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