Base by Base

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.

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Episoder(463)

119: G-quadruplexes, pericentromeres, and B cell genome instability

119: G-quadruplexes, pericentromeres, and B cell genome instability

Waisertreiger I et al., PNAS - This study tests how stabilization of G-quadruplex (G4) DNA by ligands such as pyridostatin (PDS) affects genome stability in primary and malignant B cells. The authors ...

27 Aug 202518min

118: Cancer cells subvert the primate-specific KRAB zinc finger protein ZNF93 to control APOBEC3B

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-spe...

26 Aug 202519min

117: Pol III–linked polyadenylation fuels SINE RNA accumulation during infection

117: Pol III–linked polyadenylation fuels SINE RNA accumulation during infection

Pol III–linked polyadenylation fuels SINE RNA accumulation during infection Music:Enjoy the music based on this article at the end of the episode. DOI:10.1073/pnas.2507186122 Support:Base by Base –...

25 Aug 202516min

116: Silent but Stalling: A Synonymous mtDNA Variant Shapes CD8+ T Cells

116: Silent but Stalling: A Synonymous mtDNA Variant Shapes CD8+ T Cells

Lareau CA et al., PNAS - Single-cell multiomic profiling identifies a mosaic synonymous mtDNA variant (m.7076A>G) in MT-CO1 that is selectively depleted in CD8+ effector memory T cells. Mechanistic as...

24 Aug 202515min

115: Neurofibromin, KRAS, and new targets for NF1 tumors

115: Neurofibromin, KRAS, and new targets for NF1 tumors

Vasudevan HN et al., PNAS - CRISPRi, transcriptomic and proteomic profiling in peripheral nervous system cell models reveal how NF1 loss rewires Ras signaling, alters MEK inhibitor response, and nomin...

24 Aug 202515min

114: One-hour extraction-free LAMP HPV test for point-of-care screening

114: One-hour extraction-free LAMP HPV test for point-of-care screening

Barra MJ et al et al., Nature Communications (2025) 16:7295 - This study reports development and analytic evaluation of an extraction-free DARQ LAMP assay detecting HPV16, HPV18, and HPV45 plus a cell...

22 Aug 202516min

113: Joint cohort genomics cracks ultra‑rare disease cases

113: Joint cohort genomics cracks ultra‑rare disease cases

Nadimpalli Kobren S et al., Nature Communications - The Undiagnosed Diseases Network (UDN) applied joint whole‑genome analysis across 4,236 individuals and introduced RaMeDiES, an analytical framework...

21 Aug 202522min

112: Local Genetic Sex Differences in Quantitative Traits

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 ...

20 Aug 202521min

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