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(444)

363: cfDNA size deconvolution reveals a 159‑bp nucleosomal pivot and tumor fragmentomic signatures

363: cfDNA size deconvolution reveals a 159‑bp nucleosomal pivot and tumor fragmentomic signatures

Zhou Z et al., Nature Communications - This study develops a Lorentzian deconvolution model of cfDNA fragment length distributions across bodily fluids, identifies a ~159 bp component that demarcates ...

9 Maj 22min

362: D614G Reshapes Spike Allostery and Speeds RBD Opening

362: D614G Reshapes Spike Allostery and Speeds RBD Opening

Kearns FL et al., PNAS - Simulations and HDXMS reveal how the D614G substitution alters internal communication in SARS-CoV-2 spike, enabling faster receptor-binding-domain opening through newly engage...

9 Maj 18min

361: Chiral Inversion Mutagenesis Reveals Structured Hotspots in LCDs

361: Chiral Inversion Mutagenesis Reveals Structured Hotspots in LCDs

Beckner RL et al., PNAS - This episode examines a PNAS study using Chiral Inversion Mutagenesis (ChIM) to scan low-complexity domains (LCDs) of Emerin and neurofilament light chain (NEFL). Targeted L-...

8 Maj 24min

360: An inverse correlation between structural linguistic and human genetic diversity

360: An inverse correlation between structural linguistic and human genetic diversity

Graff A et al., PNAS - A PNAS study linking global population-genetic data and structural linguistic features finds an inverse correlation: regions with lower genetic diversity show higher structural ...

7 Maj 26min

359: Ultrapotent PDCoV Miniprotein MB11

359: Ultrapotent PDCoV Miniprotein MB11

Avery NG et al., PNAS - This episode covers a PNAS study reporting the de novo design of miniprotein inhibitors targeting porcine deltacoronavirus (PDCoV). The lead minibinder, MB11, binds the PDCoV R...

6 Maj 23min

358: CHCHD4 and a Pediatric OXPHOS Collapse

358: CHCHD4 and a Pediatric OXPHOS Collapse

Mantecon M et al., Human Genetics and Genomics Advances - This episode reviews a brief communication reporting a pediatric patient with biallelic CHCHD4 variants who presented with severe neurological...

5 Maj 25min

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 Maj 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 Maj 24min

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