Base by Base
Episodes
️ 80: Genomic Forecasting of Postoperative Outcomes in Congenital Cardiac Surgery
19 Jul 2025
Contributed by Lukas
️ Episode 80: Genomic Forecasting of Postoperative Outcomes in Congenital Cardiac Surgery In this episode of PaperCast Base by Base, we explore the ...
️ 79: Cross-Population GWAS and Proteomic Insights in Atrial Fibrillation
18 Jul 2025
Contributed by Lukas
️ Episode 79: Cross-Population GWAS and Proteomic Insights in Atrial Fibrillation In this episode of PaperCast Base by Base, we explore a cross-popu...
️ 78: Interactions between TTYH2 and APOE Facilitate Endosomal Lipid Transfer
17 Jul 2025
Contributed by Lukas
️ Episode 78: Interactions between TTYH2 and APOE Facilitate Endosomal Lipid Transfer In this episode of PaperCast Base by Base, we explore the disc...
️ 77: Range Extender: Unlocking Long-Distance Enhancer Activity
16 Jul 2025
Contributed by Lukas
️ Episode 77: Range Extender: Unlocking Long-Distance Enhancer Activity In this episode of PaperCast Base by Base, we explore the discovery and func...
️ 76: Whole-genome Ancestry of an Old Kingdom Egyptian
15 Jul 2025
Contributed by Lukas
️ 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-ge...
️ 75: Metabolic Shaping of Enzyme Structures Over 400 Million Years
14 Jul 2025
Contributed by Lukas
️ Episode 75: Metabolic Shaping of Enzyme Structures Over 400 Million Years In this episode of PaperCast Base by Base, we explore a large-scale stud...
️ 74: Benchmarking T Cell Receptor–Epitope Predictors with ePytope-TCR
13 Jul 2025
Contributed by Lukas
️ Episode 74: Benchmarking T Cell Receptor–Epitope Predictors with ePytope-TCR In this episode of PaperCast Base by Base, we explore a unified com...
️ 73: Assessing Family History in Dementia Genetics: Enhancing Diagnostic Yield
12 Jul 2025
Contributed by Lukas
️ Episode 73: Assessing Family History in Dementia Genetics: Enhancing Diagnostic Yield In this episode of PaperCast Base by Base, we explore a stud...
️ 72: The POC5 Syndrome — A Ciliopathy Linking Retina, Muscles and Metabolism
11 Jul 2025
Contributed by Lukas
️ Episode 72: The POC5 Syndrome — A Ciliopathy Linking Retina, Muscles and Metabolism In this episode of Base by Base, we explore a multi-institut...
️ 71: ELFN1 Deficiency Disorder — Mechanistic Basis and Phenotypic Spectrum of a Neurodevelopmental Disorder with Epilepsy
10 Jul 2025
Contributed by Lukas
️ Episode 71: ELFN1 Deficiency Disorder — Mechanistic Basis and Phenotypic Spectrum of a Neurodevelopmental Disorder with Epilepsy In this episode...
️ 70: Scalable Screening of Ternary-Code DNA Methylation Dynamics Associated with Human Traits
09 Jul 2025
Contributed by Lukas
️ Episode 70: Scalable Screening of Ternary-Code DNA Methylation Dynamics Associated with Human Traits In this episode of Base por Base, we delve in...
️ 69: Synthetic Dosage Lethality of PLK1 — Targetable Vulnerabilities in PLK1-Overexpressing Cancers
08 Jul 2025
Contributed by Lukas
️ Episode 69: Synthetic Dosage Lethality of PLK1 — Targetable Vulnerabilities in PLK1-Overexpressing Cancers In this episode of Base por Base, we ...
️ 68: Indels Empower Antiviral Proteins to Achieve Functional Novelty Beyond Missense Mutations
07 Jul 2025
Contributed by Lukas
️ Episode 68: Indels Empower Antiviral Proteins to Achieve Functional Novelty Beyond Missense Mutations In this episode of Base by Base, we dive int...
️ 67: Smarter Signals — How Multimodal AI Boosts Genetic Prediction of Heart Disease
06 Jul 2025
Contributed by Lukas
️ Episode 67: Smarter Signals — How Multimodal AI Boosts Genetic Prediction of Heart Disease In this episode of Base por Base, we delve into a maj...
️ 66: Mainstreaming Clinical Genetic Testing — A Conceptual Framework
05 Jul 2025
Contributed by Lukas
️ Episode 66: Mainstreaming Clinical Genetic Testing — A Conceptual Framework In this episode of Base por Base, we delve into the consensus-based ...
️ 65: Uncovering Hidden Splice Defects — Genome Sequencing and Group-Enrichment in Marfan Syndrome
04 Jul 2025
Contributed by Lukas
️ Episode 65: Uncovering Hidden Splice Defects — Genome Sequencing and Group-Enrichment in Marfan Syndrome In this episode of Base por Base, we de...
️ 64: Pisces — A Multi-Modal Framework for Predicting Drug Combination Synergy
03 Jul 2025
Contributed by Lukas
️ Episode 64: Pisces — A Multi-Modal Framework for Predicting Drug Combination Synergy In this episode of Base by Base, we delve into a groundbrea...
️ 63: Sampling Scale Matters — A Spatial Model for Rare Variant Discovery in Biobank-Scale Datasets
02 Jul 2025
Contributed by Lukas
️ Episode 63: Sampling Scale Matters — A Spatial Model for Rare Variant Discovery in Biobank-Scale Datasets In this episode of Base by Base, we de...
️ 62: Breaking Resistance — How BRCA2-Deficient Tumors Escape PARP Inhibition Without Reversion Mutations
01 Jul 2025
Contributed by Lukas
️ Episode 62: Breaking Resistance — How BRCA2-Deficient Tumors Escape PARP Inhibition Without Reversion Mutations In this episode of Base by Base,...
️ 61: Monkeypox on the Frontline — Developing Brazil’s First qPCR Diagnostic Assay
30 Jun 2025
Contributed by Lukas
️ Episode 61: Monkeypox on the Frontline — Developing Brazil’s First qPCR Diagnostic Assay In this episode of Base by Base, we trace the rapid d...
️ 60: Epi-PRS — A New Frontier in Polygenic Risk Prediction with Epigenomic Features
30 Jun 2025
Contributed by Lukas
️ Episode 60: Epi-PRS — A New Frontier in Polygenic Risk Prediction with Epigenomic Features In this episode of Base by Base, we explore a breakth...
️ 59: Building Trust — Redefining Participant and Community Engagement in Cancer Genomics
29 Jun 2025
Contributed by Lukas
️ Episode 59: Building Trust — Redefining Participant and Community Engagement in Cancer Genomics In this episode of Base by Base, we dive into a ...
️ 58: Aneuploid Cells and Cellular Battles — How Cell Interactions Shape Genome Integrity
28 Jun 2025
Contributed by Lukas
️ Episode 58: Aneuploid Cells and Cellular Battles — How Cell Interactions Shape Genome Integrity In this episode of Base by Base, we explore a gr...
️ 57: Low Uptake of Genetic Testing in Medicaid-Enrolled Children with ASD and Intellectual Disability
27 Jun 2025
Contributed by Lukas
️ Episode 57: Low Uptake of Genetic Testing in Medicaid-Enrolled Children with ASD and Intellectual Disability In this episode of Base by Base, we d...
️ 56: Neuronal Immunoproteasome — A Metabolic Trigger for Ferroptotic Neurodegeneration in Multiple Sclerosis
26 Jun 2025
Contributed by Lukas
️ Episode 56: Neuronal Immunoproteasome — A Metabolic Trigger for Ferroptotic Neurodegeneration in Multiple Sclerosis In this episode of Base by B...
️ 55: Denisovan DNA in Dental Calculus — Linking Morphology and Genetics in a 146,000-Year-Old Hominin
25 Jun 2025
Contributed by Lukas
️ Episode 55: Denisovan DNA in Dental Calculus — Linking Morphology and Genetics in a 146,000-Year-Old Hominin In this episode of Base by Base, we...
️ 54: Temporal Immune Landscapes — A Multi-Omic Lens on COVID-19 in End-Stage Kidney Disease
24 Jun 2025
Contributed by Lukas
️ Episode 54: Temporal Immune Landscapes — A Multi-Omic Lens on COVID-19 in End-Stage Kidney Disease In this new Base by Base episode we unpack a ...
️ 53: Weighing the Evidence — A Systematic Review of Polygenic Risk Score Economic Evaluations
23 Jun 2025
Contributed by Lukas
️ Episode 53: Weighing the Evidence — A Systematic Review of Polygenic Risk Score Economic Evaluations In this episode of Base by Base, we explore...
️ 52: Human Genetic Variation Reveals FCRL3 as a Lymphocyte Receptor for Yersinia pestis
22 Jun 2025
Contributed by Lukas
️ 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 cel...
️ 51: Diagnosing the Undiagnosed — A Phenotype-Driven Pipeline for Mitochondrial DNA Discovery
21 Jun 2025
Contributed by Lukas
️ Episode 51: Diagnosing the Undiagnosed — A Phenotype-Driven Pipeline for Mitochondrial DNA Discovery In this episode of Base by Base, we dive in...
️ 50: The Microbiome for Clinicians — Bridging Research and Practice
19 Jun 2025
Contributed by Lukas
️ Episode 50: The Microbiome for Clinicians — Bridging Research and Practice In this episode of Base by Base, we explore a Perspective article by ...
️ 49: Chitin as a Reservoir for Horizontal Gene Transfer — Environmental DNA Adsorption and Natural Transformation in Vibrio cholerae
18 Jun 2025
Contributed by Lukas
️ Episode 49: Chitin as a Reservoir for Horizontal Gene Transfer — Environmental DNA Adsorption and Natural Transformation in Vibrio cholerae In t...
️ 48: Mainstreaming Genetic Testing — A Conceptual Framework for Expanding Genomic Medicine
16 Jun 2025
Contributed by Lukas
️ Episode 48: Mainstreaming Genetic Testing — A Conceptual Framework for Expanding Genomic Medicine In this episode of Base by Base, we explore an...
️ 47: Selectivity and Promiscuity — Decoding the Human Chemokine-GPCR Network
16 Jun 2025
Contributed by Lukas
️ Episode 47: Selectivity and Promiscuity — Decoding the Human Chemokine-GPCR Network In this episode of Base by Base, we explore a systems-level ...
️ 46: Pan-Epitranscriptomic Control — How tRNA and m6A Interact to Regulate mRNA Decay
14 Jun 2025
Contributed by Lukas
️ 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 la...
️ 45: Probing Nucleolar Mechanics — RNA-Dependent Viscoelasticity of Nucleolar Subcompartments
12 Jun 2025
Contributed by Lukas
️ Episode 45: Probing Nucleolar Mechanics — RNA-Dependent Viscoelasticity of Nucleolar Subcompartments In this episode of Base por Base, we delve ...
️ 44: Proofreading Precision — Unveiling the Cryo-EM Mechanism of Human DNA Polymerase ε Holoenzyme
12 Jun 2025
Contributed by Lukas
️ Episode 44: Proofreading Precision — Unveiling the Cryo-EM Mechanism of Human DNA Polymerase ε Holoenzyme In this episode of Base per Base, we ...
️ 43: Personalized Molecular Signatures of Insulin Resistance and Type 2 Diabetes
11 Jun 2025
Contributed by Lukas
️ Episode 43: Personalized Molecular Signatures of Insulin Resistance and Type 2 Diabetes In this episode of Base by Base, we explore the groundbrea...
️ 42: Amino Acids Catalyse RNA Formation — Unlocking Prebiotic Cross-Catalysis
11 Jun 2025
Contributed by Lukas
️ Episode 42: Amino Acids Catalyse RNA Formation — Unlocking Prebiotic Cross-Catalysis In this episode of Base por Base, we delve into the groundb...
️ 41: Public Preferences for Genomic Newborn Screening in Australia — Insights from Discrete Choice Experiments
10 Jun 2025
Contributed by Lukas
️ Episode 41: Public Preferences for Genomic Newborn Screening in Australia — Insights from Discrete Choice Experiments In this episode of Base by...
️ 40: Lysosomal Proton Leak — Uncovering SLC7A11’s Role as an Unconventional H⁺ Transit Pathway
09 Jun 2025
Contributed by Lukas
️ Episode 40: Lysosomal Proton Leak — Uncovering SLC7A11’s Role as an Unconventional H⁺ Transit Pathway In this episode of Base by Base, we de...
️ 39: Whole-Genome Polygenic Score Inference — Fast and Memory-Efficient Algorithms for Scalable PRS
07 Jun 2025
Contributed by Lukas
️ Episode 39: Whole-Genome Polygenic Score Inference — Fast and Memory-Efficient Algorithms for Scalable PRS In this episode of Base by Base, we d...
️ 38: Viral Journeys — Tracing the Ancestral Bat Origins of SARS-CoV and SARS-CoV-2
07 Jun 2025
Contributed by Lukas
️ Episode 38: The Recency and Geographical Origins of Bat Viruses Ancestral to SARS-CoV and SARS-CoV-2 In this episode of Base by Base, we delve int...
️ 37: Proteomic Clues — Prioritizing Functional Missense Variants with Chemoproteomics
06 Jun 2025
Contributed by Lukas
️ Episode 37: Proteomic Clues — Prioritizing Functional Missense Variants with Chemoproteomics In this episode of Base by Base, we highlight a new...
️ 36: Bi-allelic POPDC2 Variants: A Novel Autosomal Recessive Cardiac Syndrome
06 Jun 2025
Contributed by Lukas
️ Episode 36: Bi-allelic POPDC2 Variants: A Novel Autosomal Recessive Cardiac Syndrome In this episode of Base by Base, we discuss a groundbreaking ...
️ 35: Tracing the Evolutionary History of CCR5Δ32 — Insights from Ancient and Modern Genomes
06 Jun 2025
Contributed by Lukas
️ Episode 35: Tracing the Evolutionary History of CCR5Δ32 — Insights from Ancient and Modern Genomes In this episode of Base by Base, we explore ...
️ 34: Enzyme Replacement Therapy in Homocystinuria — Safety and Efficacy of Pegtibatinase in the Phase 1/2 COMPOSE Trial
06 Jun 2025
Contributed by Lukas
️ Episode 34: Enzyme Replacement Therapy in Homocystinuria — Safety and Efficacy of Pegtibatinase in the Phase 1/2 COMPOSE Trial In this episode o...
️ 33: Mis-splicing-derived Neoantigens — A New Avenue for Immunotherapy in Leukemia
05 Jun 2025
Contributed by Lukas
️ Episode 33: Mis-splicing-derived Neoantigens — A New Avenue for Immunotherapy in Leukemia In this episode of Base por Base, we examine groundbre...
️ 32: Idursulfase Beta — A New Therapeutic Option for MPS II with Strong Clinical Evidence
05 Jun 2025
Contributed by Lukas
️ Episode 32: Idursulfase Beta — A New Therapeutic Option for MPS II with Strong Clinical Evidence In this episode of Base por Base, we delve into...
️ 31: Decoding Hidden Signals — Genome Sequencing Reveals Cryptic Splicing Variants in Marfan Syndrome
05 Jun 2025
Contributed by Lukas
️ Episode 31: Decoding Hidden Signals — Genome Sequencing Reveals Cryptic Splicing Variants in Marfan Syndrome In this episode of Base por Base, w...
️30: Heart in the Genes — A New Genetic Syndrome Linked to POPDC2
26 May 2025
Contributed by Lukas
Episode 30: Heart in the Genes — A New Genetic Syndrome Linked to POPDC2 In this episode of Base by Base, we delve into a groundbreaking study by N...
️ 29: Rethinking Agency for Genetic Testing Intention among Latinos — Determining Predictors of Intention for Carrier Screening and Cancer Predisposition Testing
23 May 2025
Contributed by Lukas
️ Episode 29: Rethinking Agency for Genetic Testing Intention among Latinos — Determining Predictors of Intention for Carrier Screening and Cancer...
️ 28: Cell-Type-Resolved TWAS — scPrediXcan Integrates Deep Learning and Single-Cell Data for Transcriptome-Wide Association Studies
22 May 2025
Contributed by Lukas
️ Episode 28: Cell-Type-Resolved TWAS — scPrediXcan Integrates Deep Learning and Single-Cell Data for Transcriptome-Wide Association Studies In th...
️ 27: Nucleocytosolic Vehicles — A CRISPR RNP Delivery Breakthrough
21 May 2025
Contributed by Lukas
️ Episode 27: Nucleocytosolic Vehicles — A CRISPR RNP Delivery Breakthrough In this episode of Base by Base, we delve into a novel virus-like part...
️ 26: Reannotation in Focus — Uncovering Functional Non-Coding Mutations in Melanoma
20 May 2025
Contributed by Lukas
️ Episode 26: Reannotation in Focus — Uncovering Functional Non-Coding Mutations in Melanoma In this episode of Base por Base, we delve into a bre...
️ 25: Uncovering Mitochondrial DNA Diseases — The Solve-RD Experience with Genotype and Phenotype Integration
19 May 2025
Contributed by Lukas
️ Episode 25: Uncovering Mitochondrial DNA Diseases — The Solve-RD Experience with Genotype and Phenotype Integration In this episode of Base por ...
️ 24: The Role of the X Chromosome in Complex Trait Genetics — Unraveling Dosage-Compensation Mechanisms
18 May 2025
Contributed by Lukas
️ Episode 24: The Role of the X Chromosome in Complex Trait Genetics — Unraveling Dosage-Compensation Mechanisms In this installment of Base por B...
️ 23: Evaluating the Return of Additional Findings from the 100,000 Genomes Project — Participant Experiences of Secondary Genomic Findings
17 May 2025
Contributed by Lukas
️ Episode 23: Evaluating the Return of Additional Findings from the 100,000 Genomes Project — Participant Experiences of Secondary Genomic Finding...
️ 22: Immune Sensing Unveiled — Ribonuclease Control of Naked Extracellular RNA
16 May 2025
Contributed by Lukas
️ Episode 22: Immune Sensing Unveiled — Ribonuclease Control of Naked Extracellular RNA In this episode of Base por Base, we explore a landmark st...
️ 21: High-Throughput Variant Discovery — Pooled Prime Editing in Human Cells
16 May 2025
Contributed by Lukas
️ Episode 21: High-Throughput Variant Discovery — Pooled Prime Editing in Human Cells In this episode of Base by Base, we explore a cutting-edge p...
️ 20: Genotype-Specific Chemoprevention with Sulfadoxine-Pyrimethamine
16 May 2025
Contributed by Lukas
️ Episode 20: Genotype-Specific Chemoprevention with Sulfadoxine-Pyrimethamine In this episode of Base by Base, we examine a comprehensive analysis ...
️ 19: Systematic Identification of Promoter and UTR Variants in Rare Disease Diagnostics
14 May 2025
Contributed by Lukas
️ Episode 19: Systematic Identification of Promoter and UTR Variants in Rare Disease Diagnostics In this episode of Base by Base, we delve into Mart...
️ 18: Bi-allelic UGGT1 Variants Define a Distinct Congenital Disorder of Glycosylation
13 May 2025
Contributed by Lukas
️ Episode 18: Bi-allelic UGGT1 Variants Define a Distinct Congenital Disorder of Glycosylation In this episode of PaperCast Base by Base, we explore...
️ 17: The Structure of Human Sweetness — Cryo-EM of the TAS1R2+TAS1R3 Sweet Taste Receptor
13 May 2025
Contributed by Lukas
️ Episode 17: The Structure of Human Sweetness — Cryo-EM of the TAS1R2+TAS1R3 Sweet Taste Receptor In this episode of Base por Base, we explore a ...
️ 16: Equity in Focus: Building a Truly Global Genomic Landscape
25 Apr 2025
Contributed by Lukas
️ Episode 16: Equity in Focus: Building a Truly Global Genomic Landscape In this episode of Base by Base, we address one of the most pressing issues...
️ 15: What Makes Us Human? Genetics from Neandertals to Now
25 Apr 2025
Contributed by Lukas
️ Episode 15: What Makes Us Human? Genetics from Neandertals to Now In this episode of Base by Base, we travel back in time—over 600,000 years—t...
️ 14: Beyond the Genome - Societal Value of National Genomics Programmes
25 Apr 2025
Contributed by Lukas
️ Episode 14: Beyond the Genome: Societal Value of National Genomics Programmes In this episode of Base by Base, we discuss a thought-provoking repo...
️ 13: Decoding De Novo: A Multigenerational Benchmark for Human Mutation Rates
25 Apr 2025
Contributed by Lukas
️ Episode 13: Decoding De Novo: A Multigenerational Benchmark for Human Mutation Rates In this episode of Base by Base, we explore a monumental stud...
️ 12: Repairing the Blueprint: Insights from MUTYH Structure and Cancer-Associated Variants
19 Apr 2025
Contributed by Lukas
️ Episode 12: Repairing the Blueprint: Insights from MUTYH Structure and Cancer-Associated Variants In this episode of Base by Base, we explore a pi...
️ 11: Targeting Mitochondria: A Therapeutic Strategy for Dnmt3a-Mutant Clonal Hematopoiesis
19 Apr 2025
Contributed by Lukas
️ Episode 11: Targeting Mitochondria: A Therapeutic Strategy for Dnmt3a-Mutant Clonal Hematopoiesis In this episode of Base by Base, we dive into a ...
️ 10: Targeting the Genome: Guidelines for Antisense Oligonucleotide Therapy Eligibility
18 Apr 2025
Contributed by Lukas
️ Episode 10: Targeting the Genome: Guidelines for Antisense Oligonucleotide Therapy Eligibility In this episode of Base by Base, we explore a trans...
️ 9: Unraveling Complexity: A Bayesian Graphical Model for Joint Mendelian Randomization
18 Apr 2025
Contributed by Lukas
️ Episode 9: Unraveling Complexity: A Bayesian Graphical Model for Joint Mendelian Randomization In this episode of Base by Base, we explore a groun...
️ 8: Mapping Structural Variation: A Global Reference for Clinical and Population Genomics
17 Apr 2025
Contributed by Lukas
️ Episode 8: Mapping Structural Variation: A Global Reference for Clinical and Population Genomics In this episode of Base by Base, we explore a lan...
️ 7: Filtering with Precision: How High-Resolution Variant Frequencies Enhance Clinical Genome Interpretation
17 Apr 2025
Contributed by Lukas
️ Episode 7: Filtering with Precision: How High-Resolution Variant Frequencies Enhance Clinical Genome Interpretation In this episode of Base by Bas...
️ 6: Cracking the Code: How TRMT1 Mutations Disrupt tRNA and Drive Neurodevelopmental Disorders
17 Apr 2025
Contributed by Lukas
️ Episode 6: Cracking the Code: How TRMT1 Mutations Disrupt tRNA and Drive Neurodevelopmental Disorders In this episode of Base by Base, we dive int...
️5: Decoding Preterm Birth: How cfDNA Promoter Profiles Can Predict Pregnancy Risk
16 Apr 2025
Contributed by Lukas
️ 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-sc...
️4: Shaping the Heart: How CXCL12 Drives Coronary Artery Anatomy
16 Apr 2025
Contributed by Lukas
️ Episode 4: Shaping the Heart: How CXCL12 Drives Coronary Artery Anatomy In this episode of Base by Base, we explore a groundbreaking 2025 study pu...
️3: Heuristics in Splicing: Rethinking Variant Impact from the Genome Up
16 Apr 2025
Contributed by Lukas
️ Episode 3: Heuristics in Splicing: Rethinking Variant Impact from the Genome Up In this episode of Base by Base, we discuss a 2025 study published...
️2: Tube Matters: How Additives Shape Cell-Free DNA Stability
16 Apr 2025
Contributed by Lukas
In this episode of Base by Base, we delve into a pivotal study examining how different blood collection tube additives—EDTA, citrate, heparin, and s...
️1: Structure-Informed Scoring: Enhancing BRCA1 Variant Interpretation
15 Apr 2025
Contributed by Lukas
In this episode of Base by Base, we explore a recent study published in The American Journal of Human Genetics that investigates the integration of st...