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(441)

241: Wagyu T2T reveals a cattle X neocentromere

241: Wagyu T2T reveals a cattle X neocentromere

Pineda PS et al., Nature Communications - A telomere-to-telomere Wagyu assembly uncovers a natural neocentromere on the cattle X formed by inverted repeats and transposable element expansion, adds hun...

27 Des 202518min

240: CYFIP1 controls cortical axon development by modulating calcium

240: CYFIP1 controls cortical axon development by modulating calcium

Ricci C et al., Nature Communications - Reduction of CYFIP1 delays callosal axon growth and arborization by lowering intracellular calcium and impairing mitochondrial function. Key terms: cyfip1, axon...

26 Des 202518min

239: Genomic Adaptations of the Svalbard Reindeer

239: Genomic Adaptations of the Svalbard Reindeer

Genome Biology and Evolution - The Genomic Basis of the Svalbard Reindeer’s Adaptation to an Extreme Arctic Environment Music:Enjoy the music based on this article at the end of the episode. Article...

25 Des 202519min

238: Germline polymorphisms shape antibody light chain repertoires

238: Germline polymorphisms shape antibody light chain repertoires

Engelbrecht E et al., Nat Commun - Long-read sequencing of IGK and IGL paired with AIRR-seq shows that common germline SNVs, SVs, and alleles drive inter-individual differences in light chain gene usa...

24 Des 202518min

237: Tracing enteric pathogens in Africa with metagenomics and WGS

237: Tracing enteric pathogens in Africa with metagenomics and WGS

Thystrup C et al., Nat Commun (2025) - This study combines whole-genome sequencing and metagenomics to map the diversity, abundance, and genomic relationships of enteric foodborne pathogens across hum...

23 Des 202520min

236: XPD translocation and genetic disease etiology

236: XPD translocation and genetic disease etiology

Paul T et al., Nat Commun - Computational modeling reveals how ATP-driven conformational cycles of the XPD helicase drive directional 5′→3′ translocation on single-stranded DNA and how mutations disru...

22 Des 202519min

235: Maternal H3K9 methyltransferases control aRMAE in C. elegans

235: Maternal H3K9 methyltransferases control aRMAE in C. elegans

Sands et al., Nature Communications - Using dual-color reporters in C. elegans, the study shows maternal H3K9 methyltransferases MET-2 and SET-25 antagonistically regulate autosomal random monoallelic...

21 Des 202517min

234: MTHFR genotype and methionine metabolism predict COVID-19 severity

234: MTHFR genotype and methionine metabolism predict COVID-19 severity

Petrova B et al., Proc Natl Acad Sci U S A - IMPACC longitudinal metabolomics and genomics analyses show that disruptions in one‑carbon/methionine metabolism together with MTHFR C677T genotype at hosp...

20 Des 202520min

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