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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

221: Allele-resolved nanopore tour of the human placental methylome

Episode 221

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December 07, 2025

221: Allele-resolved nanopore tour of the human placental methylome

Kindlova M et al., Nat Commun - Using phased long-read nanopore and short-read sequencing across eight trios, the study maps allele-specific DNA methylation and...

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00:20:23

220: AML cell states reveal NPM1 immune-evasion subtypes

Episode 220

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December 06, 2025

220: AML cell states reveal NPM1 immune-evasion subtypes

Lilljebjörn H et al., Nat Commun - Single-cell and bulk sequencing of 120 AML cases reveal two NPM1-mutated subtypes with distinct immune evasion mechanisms...

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00:15:48

219: Multi-omic mapping of lipid dysregulation in Parkinson’s brain

Episode 219

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December 06, 2025

219: Multi-omic mapping of lipid dysregulation in Parkinson’s brain

Hällqvist J et al., Nature Communications - Targeted multi-region lipidomics with proteomic and mitochondrial data reveals region- and stage-specific lipid alterations in Parkinson’s disease...

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00:16:41

218: SIM1 and the multi-ancestry genomics of erectile dysfunction

Episode 218

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December 04, 2025

218: SIM1 and the multi-ancestry genomics of erectile dysfunction

Bright U et al., Nat Commun - A large multi-ancestry GWAS meta-analysis identifies a dominant SIM1-linked locus and multiple genetic connections between electronic health...

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00:19:37

217: Multiscale triads of meiotic crossover patterning

Episode 217

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December 03, 2025

217: Multiscale triads of meiotic crossover patterning

White MA et al., Nature Communications - FFT and inverse-FFT analysis of Zip3/Zip2, Hop1 and Zip1 on yeast pachytene chromosomes reveals two interdigitated tiers...

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00:17:47

216: 53BP1-RIF1 and DNA-PKcs: distinct interactions in chromosomal break repair

Episode 216

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December 02, 2025

216: 53BP1-RIF1 and DNA-PKcs: distinct interactions in chromosomal break repair

Makins K et al., Nature Communications - This episode reviews a study showing that 53BP1-RIF1 and DNA-PKcs have different genetic relationships across blunt end...

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00:18:27