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(463)

223: Torsion Controls Replication: Stall and Restart

223: Torsion Controls Replication: Stall and Restart

Xiaomeng Jia et al., Berger, Smita S - New single-molecule angular optical trap assays reveal that DNA torsion directly controls T7 replisome stalling and reactivation. Key terms: DNA replication, tor...

9 Des 202516min

222: snaR-A disrupts mRNA splicing in cancer

222: snaR-A disrupts mRNA splicing in cancer

Zhou S et al., Nat Commun - This episode examines how the cancer-associated Pol III transcript snaR-A binds core splicing factors, localizes near nuclear speckles, perturbs U2-dependent splicing to in...

8 Des 202517min

221: Allele-resolved nanopore tour of the human placental methylome

221: Allele-resolved nanopore tour of the human placental methylome

Kindlova M et al., Nat Commun - Using phased long-read nanopore and short-read sequencing across eight trios, the study maps allele-specific DNA methylation and transcription in female human placentas...

7 Des 202520min

220: AML cell states reveal NPM1 immune-evasion subtypes

220: AML cell states reveal NPM1 immune-evasion subtypes

Lilljebjörn H et al., Nat Commun - Single-cell and bulk sequencing of 120 AML cases reveal two NPM1-mutated subtypes with distinct immune evasion mechanisms and divergent responses to hematopoietic st...

6 Des 202515min

219: Multi-omic mapping of lipid dysregulation in Parkinson’s brain

219: Multi-omic mapping of lipid dysregulation in Parkinson’s brain

Hällqvist J et al., Nature Communications - Targeted multi-region lipidomics with proteomic and mitochondrial data reveals region- and stage-specific lipid alterations in Parkinson’s disease that conv...

6 Des 202516min

218: SIM1 and the multi-ancestry genomics of erectile dysfunction

218: SIM1 and the multi-ancestry genomics of erectile dysfunction

Bright U et al., Nat Commun - A large multi-ancestry GWAS meta-analysis identifies a dominant SIM1-linked locus and multiple genetic connections between electronic health record-defined erectile dysfu...

4 Des 202519min

217: Multiscale triads of meiotic crossover patterning

217: Multiscale triads of meiotic crossover patterning

White MA et al., Nature Communications - FFT and inverse-FFT analysis of Zip3/Zip2, Hop1 and Zip1 on yeast pachytene chromosomes reveals two interdigitated tiers of evenly spaced protein triads that c...

3 Des 202517min

216: 53BP1-RIF1 and DNA-PKcs: distinct interactions in chromosomal break repair

216: 53BP1-RIF1 and DNA-PKcs: distinct interactions in chromosomal break repair

Makins K et al., Nature Communications - This episode reviews a study showing that 53BP1-RIF1 and DNA-PKcs have different genetic relationships across blunt end joining, deletion patterns, HDR, and ra...

2 Des 202518min

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