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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Jaksot(462)

356: Recessive Coding Associations Across Six Biobanks

356: Recessive Coding Associations Across Six Biobanks

Lassen F et al., The American Journal of Human Genetics - Meta-analysis of up to 948,690 exome- or whole-genome-sequenced individuals across six biobanks used statistical phasing to infer compound-het...

3 Touko 22min

355: Influenza D replicates in the human airway — zoonotic risk

355: Influenza D replicates in the human airway — zoonotic risk

Sanders CG et al et al., PNAS - Surveillance-derived influenza D virus (IDV) isolates were tested across cell lines, primary airway cultures, and precision-cut lung slices to assess human compatibilit...

3 Touko 24min

354: How Cohesin Acetylation and ATPase Shape Chromatin Loops and Cohesion

354: How Cohesin Acetylation and ATPase Shape Chromatin Loops and Cohesion

Costantino L et al., PNAS - Costantino et al. dissect how Eco1-mediated acetylation of Smc3 (K112, K113) and cohesin ATPase activity separately regulate chromatin loop size, loop positioning, and sist...

30 Huhti 14min

353: Masculinization Reverses Sex Differences in Fertility

353: Masculinization Reverses Sex Differences in Fertility

Schubert HA et al., PNAS - This episode reviews a global analysis showing that shifts in population sex composition have reversed historical sex gaps in fertility. Using UN World Population Prospects ...

30 Huhti 27min

352: Interspecies control of E. coli growth in human gut microbiomes

352: Interspecies control of E. coli growth in human gut microbiomes

Boumasmoud M et al., PNAS - Reciprocal transplant experiments in anaerobic microcosms show that resident human gut microbiome context alters growth of introduced Escherichia coli strains and that micr...

27 Huhti 25min

351: When Selection Survives Admixture: Hard Sweeps in Ancient Eurasians

351: When Selection Survives Admixture: Hard Sweeps in Ancient Eurasians

Harris M et al., Proceedings of the National Academy of Sciences (PNAS) - This episode examines a PNAS study that uses a domain-adaptive neural network to detect and classify selective sweeps in over ...

26 Huhti 24min

350: OPA1 A8S in Rhesus Macaques Models Autosomal Dominant Optic Atrophy

350: OPA1 A8S in Rhesus Macaques Models Autosomal Dominant Optic Atrophy

Jaggers TN et al et al., PNAS - A spontaneous OPA1 A8S missense mutation in rhesus macaques produces retinal ganglion cell loss, RNFL thinning, optic nerve atrophy, OPA1 mislocalization, and mitochond...

25 Huhti 25min

349: Oxidized rNTPs and Transcription Fidelity: How 8‑oxo‑rGTP Embeds RNA Damage

349: Oxidized rNTPs and Transcription Fidelity: How 8‑oxo‑rGTP Embeds RNA Damage

Hou P et al., PNAS - This study combines kinetic assays and X‑ray crystallography to show how 8‑oxo‑guanosine triphosphate (8‑oxo‑rGTP) is incorporated by RNA polymerase II and how its pairing geometr...

24 Huhti 21min

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