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(440)

56: When the Immunoproteasome Turns Toxic: PSMB8, PFKFB3 and Ferroptosis in MS

56: When the Immunoproteasome Turns Toxic: PSMB8, PFKFB3 and Ferroptosis in MS

Woo et al et al., Cell - This study shows that interferon-driven induction of the immunoproteasome subunit PSMB8 in neurons reduces proteasome β5 catalytic activity, causing accumulation of the glycol...

26 Jun 202516min

55: Denisovan DNA from the >146,000-year-old Harbin cranium

55: Denisovan DNA from the >146,000-year-old Harbin cranium

Fu Q et al., Cell - Recovery of mitochondrial DNA from dental calculus links the Late Middle Pleistocene Harbin cranium to Denisovans and demonstrates dental calculus as a source of ancient host DNA. ...

25 Jun 202514min

54: Immune trajectories in COVID-19 among patients with end-stage kidney disease

54: Immune trajectories in COVID-19 among patients with end-stage kidney disease

Stephenson E et al., Cell Genomics - Longitudinal single-cell multi-omics profiling of PBMCs from 61 end-stage kidney disease (ESKD) patients with COVID-19 (580,040 cells) reveals distinct temporal im...

24 Jun 202518min

53: Weighing PRS: costs, benefits, and evidence

53: Weighing PRS: costs, benefits, and evidence

Siena LM et al., The American Journal of Human Genetics - A systematic review of 24 full economic evaluations assessing polygenic risk score (PRS)–based clinical strategies across cancer, cardiovascul...

23 Jun 202517min

52: LIZS6 methods and measurements

52: LIZS6 methods and measurements

Keener R et al., Cell Genomics - A method-focused excerpt describing LIZS6-related experiments across multiple conditions (NoSk, LSFM) with quantitative readouts and protocol detail. Key terms: LIZS6,...

22 Jun 202516min

51: Finding Hidden mtDNA Diagnoses in Solve-RD

51: Finding Hidden mtDNA Diagnoses in Solve-RD

Ratnaike et al et al., The American Journal of Human Genetics - This episode reviews a Solve-RD reanalysis that integrated an mtDNA-focused bioinformatic pipeline (MToolBox) with MitoPhen HPO-based ph...

21 Jun 202517min

50: Translating the Microbiome to the Clinic

50: Translating the Microbiome to the Clinic

Porcari S et al., Cell - Perspective reviewing current diagnostic and therapeutic advances in gut microbiome research and outlining the methodological, biological, regulatory, and educational actions ...

19 Jun 202517min

49: Chitin as a reservoir: DNA adsorption and gene transfer in Vibrio cholerae

49: Chitin as a reservoir: DNA adsorption and gene transfer in Vibrio cholerae

Holt JD et al., PNAS - Using microfluidic flow assays and live-cell imaging, the authors show that environmental DNA adsorbs to chitin particles and that Vibrio cholerae can retrieve this chitin-bound...

18 Jun 202522min

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