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
130: Combining Evidence from Human Genetic and Functional Screens to Identify Pathways Altering Obesity and Fat Distribution
️ Episode 130: Combining Evidence from Human Genetic and Functional Screens to Identify Pathways Altering Obesity and Fat Distribution
In this episode of PaperCast Base by Base, we explore a large-s…
129: Structural variation and diversification of the NPIP gene family from the human pangenome
️ Episode 129: Structural variation and diversification of the NPIP gene family from the human pangenome
In this episode of PaperCast Base by Base, we explore how long-read sequencing technologies r…
128: LINE‑1 Promoters Orchestrate Early Human Brain Development
️ Episode 128: LINE‑1 Promoters Orchestrate Early Human Brain Development
In this episode of PaperCast Base by Base, we explore how evolutionarily young LINE‑1 retrotransposons are actively expresse…
127: In silico generation of synthetic cancer genomes using generative AI
️ Episode 127: In silico generation of synthetic cancer genomes using generative AI
In this episode of PaperCast Base by Base, we explore OncoGAN, a generative AI pipeline designed to produce highly…
126: Molecular and developmental deficits in Smith-Magenis syndrome human stem cell-derived cortical neural models
️ Episode 126: Molecular and developmental deficits in Smith-Magenis syndrome human stem cell-derived cortical neural models
In this episode of PaperCast Base by Base, we explore a study that invest…
125: Tackling a disease on a global scale, the Global Parkinson’s Genetics Program, GP2: A new generation of opportunities
️ Episode 125: Tackling a disease on a global scale, the Global Parkinson’s Genetics Program, GP2: A new generation of opportunities
In this episode of PaperCast Base by Base, we explore how the Glob…
124: Exploring the Omnigenic Architecture of Selected Complex Traits
️ Episode 124: Exploring the Omnigenic Architecture of Selected Complex Traits
In this episode of PaperCast Base by Base, we explore how researchers are uncovering the organizational principles behi…
123: Dominant‑Negative ATP5F1A Variants Uncouple Complex V and Drive Neurological Disease
️ Episode 123: Dominant‑Negative ATP5F1A Variants Uncouple Complex V and Drive Neurological Disease
In this episode of PaperCast Base by Base, we explore how de novo heterozygous ATP5F1A missense va…
122: Patient Stratification Reveals the Molecular Basis of Disease Co-Occurrences
️ Episode 122: Patient Stratification Reveals the Molecular Basis of Disease Co-Occurrences
In this episode of PaperCast Base by Base, we explore a study that investigates the molecular underpinning…
121: G-quadruplexes as a Source of Vulnerability in BRCA2-deficient Granule Cell Progenitors and Medulloblastoma
️ Episode 121: G-quadruplexes as a Source of Vulnerability in BRCA2-deficient Granule Cell Progenitors and Medulloblastoma
In this episode of PaperCast Base by Base, we explore how DNA secondary str…
120: Rare BMAL1 Variants Link the Circadian Clock to Neurodevelopment
️Episode 120: Rare BMAL1 Variants Link the Circadian Clock to Neurodevelopment
In this episode of PaperCast Base by Base, we explore how ultrarare heterozygous variants in BMAL1—a core circadian cloc…
119: G‑Quadruplex Stabilization Triggers Pericentromeric DNA Breaks in B Cells
️ Episode 119: G‑Quadruplex Stabilization Triggers Pericentromeric DNA Breaks in B Cells
In this episode of PaperCast Base by Base, we explore how stabilizing G‑quadruplex DNA structures with small …
118: Cancer cells subvert the primate-specific KRAB zinc finger protein ZNF93 to control APOBEC3B
️ Episode 118: Cancer cells subvert the primate-specific KRAB zinc finger protein ZNF93 to control APOBEC3B
In this episode of PaperCast Base by Base, we explore how cancer cells co-opt a primate-sp…
117: Pol III–linked polyadenylation fuels SINE RNA accumulation during infection
️ Episode 117: Pol III–linked polyadenylation fuels SINE RNA accumulation during infection
In this episode of PaperCast Base by Base, we explore how viral infection couples RNA polymerase III transc…
116: Cell Type–Specific Purifying Selection of Synonymous mtDNA Variation
️ Episode 116: Cell Type–Specific Purifying Selection of Synonymous mtDNA Variation
In this episode of PaperCast Base by Base, we explore how a seemingly “silent” synonymous mitochondrial DNA mutati…
115: A Transcriptomic, Proteomic, and Functional Genetic Atlas Dissects Neurofibromin Function in the Peripheral Nervous System
Episode 115: A Transcriptomic, Proteomic, and Functional Genetic Atlas Dissects Neurofibromin Function in the Peripheral Nervous System
In this episode of PaperCast Base by Base, we explore how an in…
114: One-hour extraction-free loop-mediated isothermal amplification HPV DNA assay for point-of-care testing in Maputo, Mozambique
️ Episode 114: One-hour extraction-free loop-mediated isothermal amplification HPV DNA assay for point-of-care testing in Maputo, Mozambique
In this episode of PaperCast Base by Base, we explore the…
113: Joint, Multifaceted Genomic Analysis Enables Diagnosis of Ultra-Rare Monogenic Presentations
️ Episode 113: Joint, Multifaceted Genomic Analysis Enables Diagnosis of Ultra-Rare Monogenic Presentations
In this episode of PaperCast Base by Base, we explore how the Undiagnosed Diseases Network …
112: Local Genetic Sex Differences in Quantitative Traits
️ Episode 112: Local Genetic Sex Differences in Quantitative Traits
In this episode of PaperCast Base by Base, we explore how genetic differences between males and females are distributed across the…
111: A Multimodal Dataset for Precision Oncology in Head and Neck Cancer
️ Episode 111: A Multimodal Dataset for Precision Oncology in Head and Neck Cancer
In this episode of PaperCast Base by Base, we explore the creation of HANCOCK, a comprehensive multimodal dataset d…