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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

00:18:35

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)

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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

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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

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00:22:08

113: Joint, Multifaceted Genomic Analysis Enables...

Base by Base ·

2025/08/21

️ 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 (UDN) applied whole‑genome sequencing and new, well‑calibrated statistics to jointly analyze diverse, ultra‑rare monogenic cases across the consortium, yielding confirmed and putative diagnoses while enabling privacy‑preserving cross‑cohort discovery via

en-us

00:22:08

113: Joint, Multifaceted Genomic Analysis Enables...

Base by Base ·

2025/08/21

️ 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 (UDN) applied whole‑genome sequencing and new, well‑calibrated statistics to jointly analyze diverse, ultra‑rare monogenic cases across the consortium, yielding confirmed and putative diagnoses while enabling privacy‑preserving cross‑cohort discovery via

en-us

00:21:16

112: Local Genetic Sex Differences in Quantitative...

Base by Base ·

2025/08/20

️ 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 genome, moving beyond global averages of heritability and correlation. The study introduces a fine-scale approach using LAVA to examine local genetic sex differences across 157 quantitative traits in the UK Biobank. Study Highlights:The researchers analyzed

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00:21:16

112: Local Genetic Sex Differences in Quantitative...

Base by Base ·

2025/08/20

️ 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 genome, moving beyond global averages of heritability and correlation. The study introduces a fine-scale approach using LAVA to examine local genetic sex differences across 157 quantitative traits in the UK Biobank. Study Highlights:The researchers analyzed

en-us

00:17:06

111: A Multimodal Dataset for Precision Oncology in...

Base by Base ·

2025/08/19

️ 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 designed to advance precision oncology in head and neck cancer. The study addresses the urgent need for large, publicly available datasets to improve biomarker discovery and outcome prediction in this challenging disease. Study Highlights:The HANCOCK dataset

en-us

00:17:06

111: A Multimodal Dataset for Precision Oncology in...

Base by Base ·

2025/08/19

️ 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 designed to advance precision oncology in head and neck cancer. The study addresses the urgent need for large, publicly available datasets to improve biomarker discovery and outcome prediction in this challenging disease. Study Highlights:The HANCOCK dataset

en-us

00:20:31

110: Whole-exome sequencing identifies new...

Base by Base ·

2025/08/18

️ Episode 110: Whole-exome sequencing identifies new schizophrenia risk genes In this episode of PaperCast Base by Base, we explore a landmark whole-exome sequencing study that expands our understanding of the rare genetic variants contributing to schizophrenia risk. By combining newly sequenced samples with large-scale published datasets, researchers provide the most comprehensive analysis to date of rare coding variants in this psychiatric disorder.

en-us

00:18:10

109: Autocrine Interferon Poisoning: ADAR1–BRCA...

Base by Base ·

2025/08/17

️ Episode 109: Autocrine Interferon Poisoning: ADAR1–BRCA Synthetic Lethality In this episode of PaperCast Base by Base, we explore how loss of the RNA editor ADAR1 becomes lethal to BRCA1/2‑mutant cancer cells through a tumor‑cell‑autonomous interferon response, outlining a biomarker‑guided path to ADAR1‑targeted therapy. Study Highlights:A focused PRR siRNA screen and multiple orthogonal validations revealed a robust synthetic lethality between

en-us

00:20:53

108: Epigenome Editing Reverses HBG Silencing

Base by Base ·

2025/08/16

️ Episode 108: Epigenome Editing Reverses HBG Silencing In this episode of PaperCast Base by Base, we explore how targeted removal of CpG methylation at the HBG promoters causally reactivates fetal hemoglobin (HbF) without cutting DNA, revealing a precise path to treat β‑hemoglobinopathies. Study Highlights:A forward CRISPR screen in adult‑type erythroid cells (HUDEP2) pinpointed UHRF1, a DNMT1 cofactor, as a mediator of HBG repression; its disruption

en-us

00:19:07

107: Genome-wide Association Study Reveals Genetic...

Base by Base ·

2025/08/15

Episode 107: Genome-wide Association Study Reveals Genetic Links to Pulpal and Apical Diseases In this episode of PaperCast Base by Base, we explore a large-scale genome-wide association study investigating the genetic underpinnings of pulpal and apical diseases. Using Finnish health registry data from over 485,000 individuals in the FinnGen cohort, researchers identified genetic loci linked to susceptibility to endodontic infections, independent of

en-us

00:19:25

106: Decoding Brain Maps for Pharmacotranscriptomics

Base by Base ·

2025/08/14

️ Episode 106: Decoding Brain Maps for Pharmacotranscriptomics In this episode of PaperCast Base by Base, we explore a Nature Communications study, that introduces a fast, surface-based framework to decode imaging-derived brain phenotypes by aligning high-resolution cortical gene-expression maps with PET targets and structural MRI patterns. The work validates gene–protein correspondences in the serotonergic system and then dissects how GABAA_AA

en-us

00:18:28

Episode 105: Genome-level Selection as a Universal...

Base by Base ·

2025/08/13

️ Episode 105: Genome-level Selection as a Universal Marker of Cancer Therapy Resistance In this episode of PaperCast Base by Base, we explore groundbreaking research revealing how the evolutionary dynamics of tumor genomes can serve as a universal marker of resistance to cancer therapy. By analyzing whole-exome sequencing data from multiple cancer types—both treated and untreated—the study uncovers a consistent evolutionary signal that correlates with

en-us

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