Base by Base

Base by Base

Por: Gustavo Barra
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.
243 episodios disponibles

Latest episodes of the podcast Base by Base

Mostrando página 12 de 13

️ 23: Evaluating the Return of Additional Findings from the 100,000 Genomes Project — Participant Experiences of Secondary Genomic Findings 17/05/2025
️ 22: Immune Sensing Unveiled — Ribonuclease Control of Naked Extracellular RNA 16/05/2025
️ 21: High-Throughput Variant Discovery — Pooled Prime Editing in Human Cells 16/05/2025
️ 20: Genotype-Specific Chemoprevention with Sulfadoxine-Pyrimethamine 16/05/2025
️ 19: Systematic Identification of Promoter and UTR Variants in Rare Disease Diagnostics 14/05/2025
️ 18: Bi-allelic UGGT1 Variants Define a Distinct Congenital Disorder of Glycosylation 13/05/2025
️ 17: The Structure of Human Sweetness — Cryo-EM of the TAS1R2+TAS1R3 Sweet Taste Receptor 13/05/2025
️ 16: Equity in Focus: Building a Truly Global Genomic Landscape 25/04/2025
️ 15: What Makes Us Human? Genetics from Neandertals to Now 25/04/2025
️ 14: Beyond the Genome - Societal Value of National Genomics Programmes 25/04/2025
️ 13: Decoding De Novo: A Multigenerational Benchmark for Human Mutation Rates 25/04/2025
️ 12: Repairing the Blueprint: Insights from MUTYH Structure and Cancer-Associated Variants 19/04/2025
️ 11: Targeting Mitochondria: A Therapeutic Strategy for Dnmt3a-Mutant Clonal Hematopoiesis 19/04/2025
️ 10: Targeting the Genome: Guidelines for Antisense Oligonucleotide Therapy Eligibility 18/04/2025
️ 9: Unraveling Complexity: A Bayesian Graphical Model for Joint Mendelian Randomization 18/04/2025
️ 8: Mapping Structural Variation: A Global Reference for Clinical and Population Genomics 17/04/2025
️ 7: Filtering with Precision: How High-Resolution Variant Frequencies Enhance Clinical Genome Interpretation 17/04/2025
️ 6: Cracking the Code: How TRMT1 Mutations Disrupt tRNA and Drive Neurodevelopmental Disorders 17/04/2025
️5: Decoding Preterm Birth: How cfDNA Promoter Profiles Can Predict Pregnancy Risk 16/04/2025
️4: Shaping the Heart: How CXCL12 Drives Coronary Artery Anatomy 16/04/2025
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