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)

27: ENVLPE+: Shuttling VLPs that load functional CRISPR RNPs

27: ENVLPE+: Shuttling VLPs that load functional CRISPR RNPs

Geilenkeuser J et al., Cell - A Cell paper describing ENVLPE/ENVLPE+, virus-like particles engineered with nucleocytosolic-shuttling Gag-PCP to recruit aptamer-tagged (pe)gRNAs and preferentially pack...

21 Maj 202516min

26: Reannotation reveals functional non-coding mutations in melanoma

26: Reannotation reveals functional non-coding mutations in melanoma

Pepe D et al., The American Journal of Human Genetics (112:1–21, June 5, 2025) - Pepe et al. show that annotating cancer mutations to the transcripts actually expressed in tumors uncovers previously o...

20 Maj 202515min

25: mtDNA discovery in Solve‑RD: phenotype‑driven reanalysis

25: mtDNA discovery in Solve‑RD: phenotype‑driven reanalysis

Ratnaike et al et al., The American Journal of Human Genetics - A semi-automated mtDNA reanalysis pipeline using MToolBox and MitoPhen HPO-based phenotype similarity was applied to the Solve-RD cohort...

19 Maj 202516min

24: X chromosome and dosage-compensation in complex traits

24: X chromosome and dosage-compensation in complex traits

Fu Y et al., The American Journal of Human Genetics - Fu et al. (2025) analyze large biobank datasets to quantify how the X chromosome contributes to complex trait heritability and how dosage-compensa...

18 Maj 202514min

23: Returning Additional Findings in the 100,000 Genomes Project

23: Returning Additional Findings in the 100,000 Genomes Project

Stafford-Smith B et al., Genetics in Medicine - Mixed-methods evaluation of how 100,000 Genomes Project participants experienced receiving positive additional findings (PAFs) for cancer or familial hy...

17 Maj 202514min

22: When RNases Hide the Message: Naked exRNA, Immune Sensing, and Translation

22: When RNases Hide the Message: Naked exRNA, Immune Sensing, and Translation

Castellano M et al., Cell Genomics - This study shows that extracellular ribonucleases mask the bioactivity of naked extracellular RNA (exRNA). When RNases are inhibited or absent, naked exRNA is inte...

16 Maj 202516min

21: Pooled prime editing maps functional human variants at scale

21: Pooled prime editing maps functional human variants at scale

Herger M et al., Cell Genomics - Herger et al. present a pooled prime editing platform in haploid human cells that installs and assays thousands of short variants in their endogenous context. Using su...

16 Maj 202517min

20: dhps Mutations and SP Protection

20: dhps Mutations and SP Protection

Mousa A et al., Nature Communications - Pooled analysis of seven therapeutic efficacy trials (1639 participants, 12 African sites) quantifies how dhps resistance genotypes shorten the duration of prot...

16 Maj 202515min

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