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(445)

315: PLE11-encoded Rta restricts ICP1 tail assembly in Vibrio cholerae outbreaks

315: PLE11-encoded Rta restricts ICP1 tail assembly in Vibrio cholerae outbreaks

Mathur Y et al., Nature - Clinical surveillance in Bangladesh shows Vibrio cholerae acquired PLE11 encoding Rta that restricts ICP1 tail assembly, driving a selective sweep of phage-resistant strains....

12 Mars 23min

314: Proactive Genomic Reanalysis at Boston Children’s: VS-NN, HPO NLP and DRAGEN find diagnoses in pediatric ES/GS

314: Proactive Genomic Reanalysis at Boston Children’s: VS-NN, HPO NLP and DRAGEN find diagnoses in pediatric ES/GS

Rockowitz S et al., Human Genetics and Genomics Advances - Boston Children's Hospital used VS-NN, HPO NLP, and DRAGEN reprocessing in a proactive genomic reanalysis to identify candidate diagnoses in ...

11 Mars 22min

313: Integrating Polygenic Risk Scores and Social Determinants of Health across Populations

313: Integrating Polygenic Risk Scores and Social Determinants of Health across Populations

Cromer SJ et al., The American Journal of Human Genetics - This paper reviews polygenic risk scores (PRS) and social determinants of health (SDoH) and outlines best practices for integrating PRS and S...

10 Mars 24min

312: Mfsd2a transports LPC to maintain epidermal linoleate pools and desquamation

312: Mfsd2a transports LPC to maintain epidermal linoleate pools and desquamation

Wong BHH et al., Proc. Natl. Acad. Sci. U.S.A - Mouse and human studies show the LPC transporter Mfsd2a enables plasma-derived LPC uptake into keratinocytes, preserving linoleate-rich phosphatidylchol...

9 Mars 14min

311: mtG3PDH (GPO1) loss in Drosophila impairs mitochondrial ATP/O, O2 consumption, and ROS

311: mtG3PDH (GPO1) loss in Drosophila impairs mitochondrial ATP/O, O2 consumption, and ROS

Herpe L et al., Proc. Natl. Acad. Sci. U.S.A - CRISPR knockout of Drosophila mtG3PDH (GPO1) reduces ATP production by ~60% and O2 consumption by ~33%, lowering mitochondrial efficiency and ROS emissio...

8 Mars 42min

310: Infant gut microbiota restoration — maternal FMT, Bifidobacterium and Bacteroides recovery after C‑section

310: Infant gut microbiota restoration — maternal FMT, Bifidobacterium and Bacteroides recovery after C‑section

Korpela K et al., Gut Microbes - Review finds maternal fecal microbiota transplantation and targeted probiotics can restore Bifidobacterium and Bacteroides after C‑section or intrapartum antibiotics, ...

7 Mars 49min

309: LASI-DAD 2,680-sample WGS panel boosts LD maps, imputation, and PRS in Indian genomes

309: LASI-DAD 2,680-sample WGS panel boosts LD maps, imputation, and PRS in Indian genomes

Li Z et al., Human Genetics and Genomics Advances - LASI-DAD 30× whole-genome sequencing of 2,680 Indian participants produced a 69.5M-variant LD panel that improves genotype imputation accuracy and P...

6 Mars 23min

308: PANDORA-seq reveals conserved rsRNA length shift and tsRNA/rsRNA aging cliff in mouse and human sperm

308: PANDORA-seq reveals conserved rsRNA length shift and tsRNA/rsRNA aging cliff in mouse and human sperm

Shi J et al., The EMBO Journal, doi:10.1038/s44318-025-00687-8 - PANDORA-seq profiling of mouse and human sperm heads identifies a conserved rsRNA length shift with age and a tsRNA/rsRNA 'aging cliff'...

5 Mars 22min

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