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(463)

247: Genome graphs reveal structural variation in M. tuberculosis

247: Genome graphs reveal structural variation in M. tuberculosis

Canalda-Baltrons A et al., Nature Communications - Long-read assemblies and a pangenome reference graph uncover widespread structural variants that shape Mycobacterium tuberculosis evolution and contr...

2 Jan 21min

246: SV2A structural pharmacology and allosteric occlusion

246: SV2A structural pharmacology and allosteric occlusion

Pidathala S et al., Nature Communications - High-resolution cryo-EM structures of human SV2A reveal that orthosteric ligands induce an occluded MFS conformation and a secondary allosteric pocket modul...

1 Jan 16min

245: Benchmarking DNA foundation models

245: Benchmarking DNA foundation models

Feng H et al., Nat Commun - A comprehensive, unbiased benchmark compares five DNA foundation models across 57 datasets and multiple tasks, finding mean token embeddings improve classification and that...

31 Dec 202519min

244: NEK7 couples SDHB to preserve mitochondrial electron transport and limit liver fibrosis

244: NEK7 couples SDHB to preserve mitochondrial electron transport and limit liver fibrosis

Sun Z et al., Nature Communications - Mitochondrial NEK7 is imported via MTS peptides, binds SDHB to stabilize complex II conformation, prevent reverse electron transport and ROS, and thereby protects...

30 Dec 202517min

243: Genome-wide UVB GxE study finds 162 vitamin D variants

243: Genome-wide UVB GxE study finds 162 vitamin D variants

Shraim R et al., Nat Commun - A GWIS of 338,977 UK Biobank White British participants using a cumulative weighted ambient UVB measure identified 307 independent loci for 25-hydroxyvitamin D, including...

29 Dec 202517min

242: AAV9-fcMISv2 gene therapy prevents pregnancy in female cats

242: AAV9-fcMISv2 gene therapy prevents pregnancy in female cats

Godin P et al., Nature Communications - A single intramuscular injection of an AAV9 vector encoding feline anti‑Müllerian hormone (fcMISv2) in prepubertal kittens produced sustained supraphysiological...

28 Dec 202517min

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 Dec 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 Dec 202518min

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