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PODCAST

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.

science life sciences

All Episodes

00:17:36

127: In silico generation of synthetic cancer genomes...

Base by Base ·

2025/09/04

️ 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 realistic synthetic cancer genomes. The study addresses the challenge of limited access to real cancer genomes due to privacy concerns by creating shareable, simulated datasets that preserve donor confidentiality. Study Highlights:The authors developed

en-us

00:17:36

127: In silico generation of synthetic cancer genomes...

Base by Base ·

2025/09/04

️ 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 realistic synthetic cancer genomes. The study addresses the challenge of limited access to real cancer genomes due to privacy concerns by creating shareable, simulated datasets that preserve donor confidentiality. Study Highlights:The authors developed

en-us

00:20:59

126: Molecular and developmental deficits in...

Base by Base ·

2025/09/03

️ 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 investigates the molecular and developmental mechanisms underlying Smith-Magenis syndrome (SMS) using human induced pluripotent stem cell (hiPSC)-derived cortical models. The research focuses on how the deletion at chromosome 17p11.2 disrupts cortical development

en-us

00:20:59

126: Molecular and developmental deficits in...

Base by Base ·

2025/09/03

️ 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 investigates the molecular and developmental mechanisms underlying Smith-Magenis syndrome (SMS) using human induced pluripotent stem cell (hiPSC)-derived cortical models. The research focuses on how the deletion at chromosome 17p11.2 disrupts cortical development

en-us

00:22:46

125: Tackling a disease on a global scale, the Global...

Base by Base ·

2025/09/02

️ 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 Global Parkinson’s Genetics Program (GP2) is addressing the critical lack of diversity in Parkinson’s disease genetics research. The article outlines the program’s mission to establish a global hub for recruitment, data generation, and collaborative discovery,

en-us

00:23:47

124: Exploring the Omnigenic Architecture of Selected...

Base by Base ·

2025/09/01

️ 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 behind complex traits through the lens of the omnigenic model. The study focuses on ulcerative colitis as a case example and investigates how core and peripheral genes interact within multi-modal molecular networks to shape disease risk and regulation. Study

en-us

00:23:47

124: Exploring the Omnigenic Architecture of Selected...

Base by Base ·

2025/09/01

️ 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 behind complex traits through the lens of the omnigenic model. The study focuses on ulcerative colitis as a case example and investigates how core and peripheral genes interact within multi-modal molecular networks to shape disease risk and regulation. Study

en-us

00:18:12

123: Dominant‑Negative ATP5F1A Variants Uncouple...

Base by Base ·

2025/08/31

️ 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 variants disrupt mitochondrial ATP synthase and manifest as pediatric neurological disorders, revealing a dominant‑negative mechanism and an isolated Complex V defect. Study Highlights:The authors describe six probands with developmental delay, dystonia,

en-us

00:19:57

122: Patient Stratification Reveals the Molecular...

Base by Base ·

2025/08/30

️ 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 underpinnings of why certain diseases tend to co-occur. By using large-scale RNA sequencing data, the authors present a novel approach to identify disease co-occurrences, revealing a shared molecular basis in many comorbidities, particularly involving the immune system

en-us

00:19:57

122: Patient Stratification Reveals the Molecular...

Base by Base ·

2025/08/30

️ 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 underpinnings of why certain diseases tend to co-occur. By using large-scale RNA sequencing data, the authors present a novel approach to identify disease co-occurrences, revealing a shared molecular basis in many comorbidities, particularly involving the immune system

en-us

00:19:02

121: G-quadruplexes as a Source of Vulnerability in...

Base by Base ·

2025/08/29

️ 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 structures called G-quadruplexes (G4s) contribute to genome instability and tumor development in BRCA2-deficient cerebellar granule cell progenitors, leading to medulloblastoma. Study Highlights:Using a mouse model with Brca2 deletion in the nervous system and

en-us

00:22:30

120: Rare BMAL1 Variants Link the Circadian Clock to...

Base by Base ·

2025/08/28

️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 clock gene—are associated with a neurodevelopmental syndrome featuring developmental delay, autism spectrum disorder, and musculoskeletal findings. Study Highlights:The authors identified ten individuals carrying very rare BMAL1 variants, five of which were de

en-us

00:18:35

119: G‑Quadruplex Stabilization Triggers...

Base by Base ·

2025/08/27

️ 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 molecules reshapes genome stability in B lymphocytes, revealing fragile hotspots in pericentromeric repeats and ribosomal DNA and exposing checkpoint-dependent differences between primary and malignant cells. Study Highlights:Using the G‑quadruplex stabilizer

en-us

00:18:35

119: G‑Quadruplex Stabilization Triggers...

Base by Base ·

2025/08/27

️ 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 molecules reshapes genome stability in B lymphocytes, revealing fragile hotspots in pericentromeric repeats and ribosomal DNA and exposing checkpoint-dependent differences between primary and malignant cells. Study Highlights:Using the G‑quadruplex stabilizer

en-us

00:19:11

118: Cancer cells subvert the primate-specific KRAB...

Base by Base ·

2025/08/26

️ 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-specific KRAB zinc finger protein, ZNF93, to fine-tune the mutagenic enzyme APOBEC3B and manage replication stress. Study Highlights:Using genome-wide KZFP binding maps, CUT&Tag, RNA-seq, and functional assays across multiple cancer cell lines, the authors

en-us

00:16:00

117: Pol III–linked polyadenylation fuels SINE RNA...

Base by Base ·

2025/08/25

️ 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 transcription with mRNA-like 3′ end processing to stabilize noncoding retrotransposon RNAs, revealing a conserved mechanism that boosts SINE RNA abundance during pathogenic stress. fileciteturn0file0 Study Highlights:Using murine gammaherpesvirus (MHV68)

en-us

00:15:53

116: Cell Type–Specific Purifying Selection of...

Base by Base ·

2025/08/24

️ 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 mutation can shape immune cell fitness, revealing cell type–specific selection in human T cells and a mechanistic link to mitochondrial translation dynamics. Study Highlights:Using single-cell multiomics on peripheral blood from a healthy donor, the authors

en-us

00:15:53

116: Cell Type–Specific Purifying Selection of...

Base by Base ·

2025/08/24

️ 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 mutation can shape immune cell fitness, revealing cell type–specific selection in human T cells and a mechanistic link to mitochondrial translation dynamics. Study Highlights:Using single-cell multiomics on peripheral blood from a healthy donor, the authors

en-us

00:15:24

115: A Transcriptomic, Proteomic, and Functional...

Base by Base ·

2025/08/24

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 integrated multi‑omics and CRISPR interference atlas maps the function of the NF1 tumor suppressor neurofibromin in peripheral nerve cells and reveals context‑specific therapeutic sensitivities relevant to neurofibromatosis type 1 and related tumors. Study

en-us

00:16:31

114: One-hour extraction-free loop-mediated...

Base by Base ·

2025/08/22

️ 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 development of a rapid and affordable HPV DNA test designed for cervical cancer screening in low-resource settings. The study introduces a one-hour, extraction-free loop-mediated isothermal amplification (LAMP) assay that directly processes cervicovaginal

en-us

448 results

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