Base by Base
VitenskapHelse

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)

185: Altered Milk Tryptophan in Women Living with HIV

185: Altered Milk Tryptophan in Women Living with HIV

️ Episode 185: Altered Milk Tryptophan in Women Living with HIV In this episode of PaperCast Base by Base, we explore a longitudinal metabolomics study of human milk that reveals how maternal HIV inf...

1 Nov 202514min

184: High-Accuracy Multiethnic XGBoost for Skin Cancer Identification

184: High-Accuracy Multiethnic XGBoost for Skin Cancer Identification

️ Episode 184: High-Accuracy Multiethnic XGBoost for Skin Cancer Identification In this episode of PaperCast Base by Base, we explore a large-scale study that builds a risk factor–based XGBoost model...

31 Okt 202517min

183: The Genetic Lottery Goes to School: Better Schools Compensate for Genetic Differences

183: The Genetic Lottery Goes to School: Better Schools Compensate for Genetic Differences

️ Episode 183: The Genetic Lottery Goes to School: Better Schools Compensate for Genetic Differences In this episode of PaperCast Base by Base, we explore a large causal study from Norway asking whet...

30 Okt 202518min

182: Genotypic, Functional, and Phenotypic Characterization in CTNNB1 Neurodevelopmental Syndrome

182: Genotypic, Functional, and Phenotypic Characterization in CTNNB1 Neurodevelopmental Syndrome

️ Episode 182: Genotypic, Functional, and Phenotypic Characterization in CTNNB1 Neurodevelopmental Syndrome In this episode of PaperCast Base by Base, we explore a large cross-sectional cohort study ...

29 Okt 202516min

181: Creatine Transporter SLC6A8: Conservation and Variant Impact

181: Creatine Transporter SLC6A8: Conservation and Variant Impact

️ Episode 181: Creatine Transporter SLC6A8: Conservation and Variant Impact In this episode of PaperCast Base by Base, we explore how the creatine transporter gene SLC6A8 (CRT1) is evolutionarily con...

28 Okt 202512min

180: Leveraging Global Genetics Resources for Equitable Polygenic Prediction

180: Leveraging Global Genetics Resources for Equitable Polygenic Prediction

️ Episode 180: Leveraging Global Genetics Resources for Equitable Polygenic Prediction In this episode of PaperCast Base by Base, we explore how multi-ancestry genome-wide association study resources...

27 Okt 202522min

179: Mosaicism for Autosomal Trisomies: Maternal Age, UPD, and Reproductive History in 1,266 Cases

179: Mosaicism for Autosomal Trisomies: Maternal Age, UPD, and Reproductive History in 1,266 Cases

️ Episode 179: Mosaicism for Autosomal Trisomies: Maternal Age, UPD, and Reproductive History in 1,266 Cases In this episode of PaperCast Base by Base, we explore a comprehensive literature analysis o...

26 Okt 202516min

178: TP53 Reduced Penetrance: Predictive Features and Clinical Implications

178: TP53 Reduced Penetrance: Predictive Features and Clinical Implications

️ Episode 178: TP53 Reduced Penetrance: Predictive Features and Clinical Implications In this episode of PaperCast Base by Base, we explore how a large ClinVar-anchored analysis integrates functional...

25 Okt 202515min

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