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.
- Update frequency
- every day
- Average duration
- 19 minutes
- Episodes
- 130
- Years Active
- 2025
️ 10: Targeting the Genome: Guidelines for Antisense Oligonucleotide Therapy Eligibility
️ Episode 10: Targeting the Genome: Guidelines for Antisense Oligonucleotide Therapy Eligibility
In this episode of Base by Base, we explore a transformative study published in The American Journal o…
️ 9: Unraveling Complexity: A Bayesian Graphical Model for Joint Mendelian Randomization
️ Episode 9: Unraveling Complexity: A Bayesian Graphical Model for Joint Mendelian Randomization
In this episode of Base by Base, we explore a groundbreaking study published in The American Journal o…
️ 8: Mapping Structural Variation: A Global Reference for Clinical and Population Genomics
️ Episode 8: Mapping Structural Variation: A Global Reference for Clinical and Population Genomics
In this episode of Base by Base, we explore a landmark study published in Nature that presents the f…
️ 7: Filtering with Precision: How High-Resolution Variant Frequencies Enhance Clinical Genome Interpretation
️ Episode 7: Filtering with Precision: How High-Resolution Variant Frequencies Enhance Clinical Genome Interpretation
In this episode of Base by Base, we explore a landmark study published in Genetic…
️ 6: Cracking the Code: How TRMT1 Mutations Disrupt tRNA and Drive Neurodevelopmental Disorders
️ Episode 6: Cracking the Code: How TRMT1 Mutations Disrupt tRNA and Drive Neurodevelopmental Disorders
In this episode of Base by Base, we dive into a 2025 study published in The American Journal of…
️5: Decoding Preterm Birth: How cfDNA Promoter Profiles Can Predict Pregnancy Risk
️ 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-scale 2025 study published in PLOS Medicine that expl…
️4: Shaping the Heart: How CXCL12 Drives Coronary Artery Anatomy
️ Episode 4: Shaping the Heart: How CXCL12 Drives Coronary Artery Anatomy
In this episode of Base by Base, we explore a groundbreaking 2025 study published in Cell that reveals how the gene CXCL12 co…
️3: Heuristics in Splicing: Rethinking Variant Impact from the Genome Up
️ 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 in The American Journal of Human Genetics that int…
️2: Tube Matters: How Additives Shape Cell-Free DNA Stability
In this episode of Base by Base, we delve into a pivotal study examining how different blood collection tube additives—EDTA, citrate, heparin, and serum—affect the integrity of cell-free DNA (cfDNA).…
️1: Structure-Informed Scoring: Enhancing BRCA1 Variant Interpretation
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 structural biology into the ACMG/AMP framework for …