Base by Base
Episodes
️ 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...