Gustavo Barra

Base by Base

Science EN ↓ 468 Folgen

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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Autor

Gustavo Barra

Kategorie

Science

Podcast-Website

basebybase.com

Neueste Folge

16. Okt 2026

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218: SIM1 and the multi-ancestry genomics of erectile dysfunction 04.12.2025

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 dysfunction and cardiometabolic, psychiatric, and substance-use traits. Key terms: erectile dysfunction, GWAS, SIM1, obesity, polygenic risk. Study Highlights: Meta-analysis of 913,194 European and 125,315...

217: Multiscale triads of meiotic crossover patterning 03.12.2025

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 correspond to canonical and minority crossovers and are differentially regulated by Pch2/TRIP13. Key terms: crossover interference, meiotic chromosomes, Zip3/Zip2, Hop1, Pch2. Study Highlights: Quantit...

216: 53BP1-RIF1 and DNA-PKcs: distinct interactions in chromosomal break repair 02.12.2025

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 radiosensitivity. Key terms: 53BP1, DNA-PKcs, RIF1, non-homologous end joining, microhomology. Study Highlights: Using EJ7-GFP and MA-del reporters in HEK293 cells, loss of 53BP1 alone did not reduce bl...

215: Protein Set Transformer for high-diversity viromics 01.12.2025

Martin et al., Nat Commun (2025) - Protein Set Transformer (PST) is a protein-based genome language model that represents genomes as sets of proteins to improve genome and protein representations across diverse viral datasets. Key terms: viromics, protein-language-model, genome-embeddings, triplet-loss, host-prediction. Study Highlights: PST embeds proteins with ESM2, concatenates positional and s...

214: PI(4,5)P2 Asymmetry Accelerates FGF2 Secretion 30.11.2025

Kaur M et al., Nature Communications - Reconstitution of asymmetric membranes and matched cell experiments show that transbilayer asymmetry of PI(4,5)P2 lowers the energetic barrier for FGF2-driven lipidic pore formation and enables rapid unconventional secretion. Disrupting PI(4,5)P2 asymmetry in cells blocks FGF2 export. Key terms: FGF2, PI(4,5)P2, membrane asymmetry, unconventional secretion, l...

213: BRAIN-MAGNET: Functional genomics atlas for non-coding variants 29.11.2025

Deng R et al. - BRAIN-MAGNET couples a ChIP-STARR-seq atlas of 148,198 neural regulatory elements with a validated convolutional neural network to predict enhancer activity and prioritize disease-relevant non-coding variants. Key terms: enhancers, neural stem cells, convolutional neural network, non-coding variants, functional genomics. Study Highlights: The authors generated an activity-ranked fu...

212: Zonal control of mutant β-catenin tumorigenesis 28.11.2025

Raven A et al. - This study shows that hepatic zonation determines whether mutant β-catenin drives proliferation and liver cancer by forcing differentiation to a non-permissive zone 3 fate or, when reversed, enabling MAPK- and mTOR-dependent growth. Key terms: hepatic zonation, beta-catenin, MYC, mTOR, IGFBP2. Study Highlights: β-catenin exon 3 mutations cooperate with exogenous MYC to produce a p...

211: Retention Elements in Cancer Cells 27.11.2025

Sankar et al. - This episode explores the discovery of genetic elements that promote the retention of extrachromosomal DNA (ecDNA) in cancer cells, enhancing their survival and evolution. Key terms: ecDNA, retention elements, cancer cells, genomic elements, oncogenes. Study Highlights: Researchers identified a family of genomic elements known as retention elements that tether ecDNA to mitotic chro...

210: Tumour-Reactive CD8 T Cell Clusters in Human Melanoma 26.11.2025

Tumour-Reactive CD8 T Cell Clusters in Human Melanoma Music: Enjoy the music based on this article at the end of the episode. DOI: 10.1038/s41586-025-09754-w License: This episode is based on an open-access article published under the Creative Commons Attribution 4.0 International License (CC BY 4.0) – https://creativecommons.org/licenses/by/4.0/ Support: Base by Base – Stripe donations: https://d...

209: PERT: Prime Editing tRNAs for Nonsense Mutations 25.11.2025

PERT: Prime Editing tRNAs for Nonsense Mutations Music: Enjoy the music based on this article at the end of the episode. DOI: 10.1038/s41586-025-09732-2 License: This episode is based on an open-access article published under the Creative Commons Attribution 4.0 International License (CC BY 4.0) – https://creativecommons.org/licenses/by/4.0/ Support: Base by Base – Stripe donations: https://donate...

208: ZAK, Collided Ribosomes, and the Stress Switch 24.11.2025

ZAK, Collided Ribosomes, and the Stress Switch Music: Enjoy the music based on this article at the end of the episode. DOI: 10.1038/s41586-025-09772-8 License: This episode is based on an open-access article published under the Creative Commons Attribution 4.0 International License (CC BY 4.0) – https://creativecommons.org/licenses/by/4.0/ Support: Base by Base – Stripe donations: https://donate.s...

207: Semantic Design of de novo Genes with Evo 24.11.2025

Semantic Design of de novo Genes with Evo Music: Enjoy the music based on this article at the end of the episode. DOI: 10.1038/s41586-025-09749-7 License: This episode is based on an open-access article published under the Creative Commons Attribution 4.0 International License (CC BY 4.0) – https://creativecommons.org/licenses/by/4.0/ Support: Base by Base – Stripe donations: https://donate.stripe...

206: Wild Birds and the North American H5N1 Epizootic 22.11.2025

Wild Birds and the North American H5N1 Epizootic Music: Enjoy the music based on this article at the end of the episode. License: This episode is based on an open-access article published under the Creative Commons Attribution 4.0 International License (CC BY 4.0) – https://creativecommons.org/licenses/by/4.0/ Support: Base by Base – Stripe donations: https://donate.stripe.com/7sY4gz71B2sN3RWac5gE...

205: Ancient RNA Expression Profiles from the Woolly Mammoth 21.11.2025

Ancient RNA Expression Profiles from the Woolly Mammoth Music: Enjoy the music based on this article at the end of the episode. License: This episode is based on an open-access article published under the Creative Commons Attribution 4.0 International License (CC BY 4.0) – https://creativecommons.org/licenses/by/4.0/ Support: Base by Base – Stripe donations: https://donate.stripe.com/7sY4gz71B2sN3...

204: StealTHY CRISPR: Revealing Hidden Metastasis Regulators 20.11.2025

StealTHY CRISPR: Revealing Hidden Metastasis Regulators Music: Enjoy the music based on this article at the end of the episode. License: CC BY 4.0 International License (CC BY 4.0) Support: Base by Base – Stripe donations: https://donate.stripe.com/7sY4gz71B2sN3RWac5gEg00 Official website https://basebybase.com On PaperCast Base by Base you’ll discover the latest in genomics, functional genomics,...

203: Divergent Evolutionary Dynamics of Benign and Malignant Tumors 19.11.2025

Divergent Evolutionary Dynamics of Benign and Malignant Tumors Music: Enjoy the music based on this article at the end of the episode. License: This episode is based on an open-access article published under the Creative Commons Attribution 4.0 International License (CC BY 4.0) – https://creativecommons.org/licenses/by/4.0/ Support: Base by Base – Stripe donations: https://donate.stripe.com/7sY4gz...

202: Stereo-seq V2: Spatial Total RNA Mapping in FFPE Tissues 19.11.2025

Stereo-seq V2: Spatial Total RNA Mapping in FFPE Tissues Music: Enjoy the music based on this article at the end of the episode. License: CC BY 4.0 International License (CC BY 4.0) Support: Base by Base – Stripe donations: https://donate.stripe.com/7sY4gz71B2sN3RWac5gEg00 Official website https://basebybase.com On PaperCast Base by Base you’ll discover the latest in genomics, functional genomics,...

201: Sex, Smoking, and Somatic Selection in the Bladder 17.11.2025

Music: Enjoy the music based on this article at the end of the episode. DOI: 10.1038/s41586-025-09521-x License: This episode is based on an open-access article published under the Creative Commons Attribution 4.0 International License (CC BY 4.0) – https://creativecommons.org/licenses/by/4.0/ Support: Base by Base – Stripe donations: https://donate.stripe.com/7sY4gz71B2sN3RWac5gEg00 Official webs...

200: Sperm Sequencing Reveals Extensive Positive Selection in the Male Germline 16.11.2025

Music: Enjoy the music based on this article at the end of the episode. DOI: 10.1038/s41586-025-09448-3 License: This episode is based on an open-access article published under the Creative Commons Attribution 4.0 International License (CC BY 4.0) – https://creativecommons.org/licenses/by/4.0/ Support: Base by Base – Stripe donations: https://donate.stripe.com/7sY4gz71B2sN3RWac5gEg00 Official webs...

199: PLD4 Deficiency and Lupus: When Nuclease Failure Ignites Autoimmunity 15.11.2025

PLD4 Deficiency and Lupus: When Nuclease Failure Ignites Autoimmunity Music: Enjoy the music based on this article at the end of the episode. License: This episode is based on an open-access article published under the Creative Commons Attribution 4.0 International License (CC BY 4.0) – https://creativecommons.org/licenses/by/4.0/ Support: Base by Base – Stripe donations: https://donate.stripe.com...

198: Mechanical Confinement and the Shape-Shifting Life of Melanoma Cells 14.11.2025

Mechanical Confinement and the Shape-Shifting Life of Melanoma Cells Music: Enjoy the music based on this article at the end of the episode. License: This episode is based on an open-access article published under the Creative Commons Attribution 4.0 International License (CC BY 4.0) – https://creativecommons.org/licenses/by/4.0/ Support: Base by Base – Stripe donations: https://donate.stripe.com/...

197: Somatic Mutation and Selection at Population Scale 13.11.2025

Somatic Mutation and Selection at Population Scale Music: Enjoy the music based on this article at the end of the episode. License: This episode is based on an open-access article published under the Creative Commons Attribution 4.0 International License (CC BY 4.0) – https://creativecommons.org/licenses/by/4.0/ Support: Base by Base – Stripe donations: https://donate.stripe.com/7sY4gz71B2sN3RWac5...

196: Impact of Chromatin Accessibility QTLs Across Immune Contexts 12.11.2025

Impact of Chromatin Accessibility QTLs Across Immune Contexts Music: Enjoy the music based on this article at the end of the episode. License: This episode is based on an open-access article published under the Creative Commons Attribution 4.0 International License (CC BY 4.0) – https://creativecommons.org/licenses/by/4.0/ Support: Base by Base – Stripe donations: https://donate.stripe.com/7sY4gz7...

195: Tiny Shields: Lymphoid Microglia in Alzheimer’s Disease 11.11.2025

Music: Enjoy the music based on this article at the end of the episode. Support: Base by Base is independent and ad-free — no sponsors, no paywall. If an episode was worth your time, chip in and keep the papers audited and the original songs coming: ❤️ Support monthly: https://buy.stripe.com/cNifZhclVebvagk2JDgEg01 ☕ One-time donation: https://donate.stripe.com/7sY4gz71B2sN3RWac5gEg00 More at bas...

194: Bayesian History of Science: Watson and Crick and the Structure of DNA 10.11.2025

️ Episode 194: Bayesian History of Science: Watson and Crick and the Structure of DNA In this episode of PaperCast Base by Base, we explore how Bayesian reasoning can be used to reconstruct the famous discovery of the DNA double helix by James Watson and Francis Crick, following the sequence of structural models proposed in the early 1950s and the evolving evidence that supported or undermined eac...

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