Base by Base

Base by Base

Por: Gustavo Barra
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.
244 episodios disponibles

Latest episodes of the podcast Base by Base

Mostrando página 9 de 13

️ 84: Variants in NR6A1 cause a novel oculo-vertebral-renal syndrome 23/07/2025
️ 83: Single-cell Analysis of dup15q Syndrome Illuminates Autism Mechanisms 22/07/2025
️ 82: JAK2 Inhibition Drives RAS Pathway Mutant Clonal Selection in Myeloproliferative Neoplasms 21/07/2025
️ 81: Clinical Impact of Pharmacogenetic Risk Variants in a Large Chinese Cohort 20/07/2025
️ 80: Genomic Forecasting of Postoperative Outcomes in Congenital Cardiac Surgery 19/07/2025
️ 79: Cross-Population GWAS and Proteomic Insights in Atrial Fibrillation 18/07/2025
️ 78: Interactions between TTYH2 and APOE Facilitate Endosomal Lipid Transfer 17/07/2025
️ 77: Range Extender: Unlocking Long-Distance Enhancer Activity 16/07/2025
️ 76: Whole-genome Ancestry of an Old Kingdom Egyptian 15/07/2025
️ 75: Metabolic Shaping of Enzyme Structures Over 400 Million Years 14/07/2025
️ 74: Benchmarking T Cell Receptor–Epitope Predictors with ePytope-TCR 13/07/2025
️ 73: Assessing Family History in Dementia Genetics: Enhancing Diagnostic Yield 12/07/2025
️ 72: The POC5 Syndrome — A Ciliopathy Linking Retina, Muscles and Metabolism 11/07/2025
️ 71: ELFN1 Deficiency Disorder — Mechanistic Basis and Phenotypic Spectrum of a Neurodevelopmental Disorder with Epilepsy 10/07/2025
️ 70: Scalable Screening of Ternary-Code DNA Methylation Dynamics Associated with Human Traits 09/07/2025
️ 69: Synthetic Dosage Lethality of PLK1 — Targetable Vulnerabilities in PLK1-Overexpressing Cancers 08/07/2025
️ 68: Indels Empower Antiviral Proteins to Achieve Functional Novelty Beyond Missense Mutations 07/07/2025
️ 67: Smarter Signals — How Multimodal AI Boosts Genetic Prediction of Heart Disease 06/07/2025
️ 66: Mainstreaming Clinical Genetic Testing — A Conceptual Framework 05/07/2025
️ 65: Uncovering Hidden Splice Defects — Genome Sequencing and Group-Enrichment in Marfan Syndrome 04/07/2025
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