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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...more

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Latest Episodes

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

Episode 117

August 25, 2025

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...

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00:16:00

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

Episode 116

August 24, 2025

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+...

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00:15:53

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

Episode 115

August 24, 2025

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,...

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00:15:24

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

Episode 114

August 22, 2025

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...

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00:16:31

113: Joint cohort genomics cracks ultra‑rare disease cases

Episode 113

August 21, 2025

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...

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00:22:08

112: Local Genetic Sex Differences in Quantitative Traits

Episode 112

August 20, 2025

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...

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00:21:16