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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Avsnitt(443)

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 Juni 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 Juni 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 Juni 202522min

48: Mainstreaming Clinical Genetic Testing: A Framework for Care

48: Mainstreaming Clinical Genetic Testing: A Framework for Care

Mackley MP et al., Genetics in Medicine - A consensus-driven conceptual framework from Canadian genetics experts describing four models for mainstreaming clinical genetic testing and the variables tha...

16 Juni 202516min

47: Encoding and decoding chemokine-GPCR selectivity

47: Encoding and decoding chemokine-GPCR selectivity

Kleist AB et al., Cell - A data-driven mapping of how 46 human chemokines and 23 GPCRs encode selective and promiscuous interactions. The team defines conserved, semi-conserved and variable determinan...

16 Juni 202522min

46: How tRNA modifications tune m6A-dependent mRNA decay

46: How tRNA modifications tune m6A-dependent mRNA decay

Linder B et al., Cell - This episode explores a pan-epitranscriptomic mechanism showing how m6A in coding sequences slows ribosomal decoding to trigger translation-dependent mRNA decay, and how the tR...

14 Juni 202520min

45: RNA-dependent mechanics of nucleolar subcompartments

45: RNA-dependent mechanics of nucleolar subcompartments

Cheng HH et al., Proceedings of the National Academy of Sciences (PNAS) - Using micropipette aspiration in Xenopus laevis oocyte nuclei, authors show the nucleolar granular component behaves as a liqu...

12 Juni 202520min

44: Polε Proofreading Revealed

44: Polε Proofreading Revealed

Wang F et al., PNAS - This episode examines a cryo-EM study that captures authentic proofreading intermediates of human Polε in complex with PCNA by generating a mismatch in situ. The work reveals how...

12 Juni 202519min

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