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PODCAST

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.

science life sciences

All Episodes

00:14:59

185: Altered Milk Tryptophan in Women Living with HIV

Base by Base ·

2025/11/01

️ 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 infection reshapes tryptophan metabolism across lactation, with potential implications for infant immunity, growth, and neurodevelopment. Study Highlights:The authors profiled the milk metabolome from hundreds of mothers over the first 18 months postpartum and

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00:17:44

184: High-Accuracy Multiethnic XGBoost for Skin...

Base by Base ·

2025/10/31

️ 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 using the All of Us cohort to accurately identify patients with skin cancer across diverse ancestries. Study Highlights:Analyzing more than 400,000 participants, the authors quantify independent associations between genetic ancestry, lifestyle, social

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00:17:44

184: High-Accuracy Multiethnic XGBoost for Skin...

Base by Base ·

2025/10/31

️ 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 using the All of Us cohort to accurately identify patients with skin cancer across diverse ancestries. Study Highlights:Analyzing more than 400,000 participants, the authors quantify independent associations between genetic ancestry, lifestyle, social

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00:18:05

183: The Genetic Lottery Goes to School: Better...

Base by Base ·

2025/10/30

️ 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 whether school quality can offset genetic differences in students’ academic skills. Using parent–offspring genetic trios from the Norwegian Mother, Father, and Child Cohort (MoBa) and nationwide administrative data, the authors combine within-family polygenic

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00:16:18

182: Genotypic, Functional, and Phenotypic...

Base by Base ·

2025/10/29

️ 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 that integrates genetics, cellular functional assays, and deep phenotyping to map the landscape of CTNNB1 neurodevelopmental syndrome. The authors analyze variant types across 127 individuals from 20 countries, probe Wnt/β-catenin signaling consequences in

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00:12:44

181: Creatine Transporter SLC6A8: Conservation and...

Base by Base ·

2025/10/28

️ 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 conserved across terrestrial mammals and how disease-associated variants alter creatine uptake in vitro, shedding light on genotype–phenotype relationships in creatine transporter deficiency. fileciteturn0file0 Study Highlights:The authors compared CRT1

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00:22:11

180: Leveraging Global Genetics Resources for...

Base by Base ·

2025/10/27

️ 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 and modern polygenic score methodologies can improve prediction accuracy across African, East Asian, and European populations, with a focus on practical, computationally efficient strategies that work even when individual-level data are unavailable. Study

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00:16:49

179: Mosaicism for Autosomal Trisomies: Maternal Age,...

Base by Base ·

2025/10/26

️ 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 of 1,266 reported cases of autosomal trisomy mosaicism, contrasting prenatal cohorts—true fetal mosaicism and confined placental mosaicism—with postnatal diagnoses to clarify how maternal age and reproductive history relate to outcomes and uniparental disomy.

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00:16:49

179: Mosaicism for Autosomal Trisomies: Maternal Age,...

Base by Base ·

2025/10/26

️ 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 of 1,266 reported cases of autosomal trisomy mosaicism, contrasting prenatal cohorts—true fetal mosaicism and confined placental mosaicism—with postnatal diagnoses to clarify how maternal age and reproductive history relate to outcomes and uniparental disomy.

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00:15:59

178: TP53 Reduced Penetrance: Predictive Features and...

Base by Base ·

2025/10/25

️ 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 assays, computational predictors, immunogenicity estimates, allele frequencies, and clinical presentation to identify TP53 variants with reduced penetrance relative to classic Li-Fraumeni syndrome. Study Highlights:The authors reviewed ClinVar to assemble a

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00:17:04

177: Biallelic MCM8/MCM9 Variants: From Hypogonadism...

Base by Base ·

2025/10/24

️ Episode 177: Biallelic MCM8/MCM9 Variants: From Hypogonadism to Cancer Predisposition In this episode of PaperCast Base by Base, we explore a multi‑cohort clinical–genomic study that delineates the phenotype of individuals with biallelic germline variants in MCM8 or MCM9, clarifying links to polyposis and early‑onset cancers in addition to the long‑recognized association with hypogonadism. Study Highlights:Using population datasets (100,000 Genomes

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00:19:32

176: FAHD1 and the Pyruvate-Driven Evolution of...

Base by Base ·

2025/10/23

️ Episode 176: FAHD1 and the Pyruvate-Driven Evolution of Hepatocellular Carcinoma In this episode of PaperCast Base by Base, we explore how multi-omics integration—spanning single-cell transcriptomics, spatial mapping, and causal genetic inference—uncovers a pyruvate-hyperactive epithelial subpopulation in hepatocellular carcinoma and identifies FAHD1 as a central regulator linked to poor prognosis and immune evasion. Study Highlights:The authors

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00:19:13

175: Predictive Prioritization of Pancreatic...

Base by Base ·

2025/10/22

️ Episode 175: Predictive Prioritization of Pancreatic Enhancers Linked to Disease Risk In this episode of PaperCast Base by Base, we explore how enhancer–promoter 3D chromatin maps from five primary human pancreatic cell types were transformed into graph “tree” models to quantify enhancer connectivity and prioritize elements most critical for cell-type-specific gene expression, creating a framework to connect noncoding variants to function in pancreatic

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00:16:40

174: TMEM217–SLC9C1: Wiring the cAMP Switch for Sperm...

Base by Base ·

2025/10/21

️ Episode 174: TMEM217–SLC9C1: Wiring the cAMP Switch for Sperm Motility and Male Fertility In this episode of PaperCast Base by Base, we explore a PNAS study revealing how TMEM217 forms a complex with the sperm-specific Na+/H+ exchanger SLC9C1 to organize cAMP signaling, sustain motility, and enable fertilization in mice. Study Highlights:Using phylogenetic profiling and interactomics, the authors identified TMEM217 as a conserved partner of the

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00:20:12

173: Bottlebrush Block Copolymer Shields Muscles and...

Base by Base ·

2025/10/20

️ Episode 173: Bottlebrush Block Copolymer Shields Muscles and Prevents DMD Onset In this episode of PaperCast Base by Base, we explore a PNAS study showing how a synthetic bottlebrush block copolymer can act as a powerful membrane stabilizer to protect dystrophin-deficient muscle in Duchenne muscular dystrophy. Study Highlights:Researchers engineered and tested an amphiphilic bottlebrush diblock polymer, B–PEO43_10–PPO15_5, as a membrane stabilizer in

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00:19:44

172: When Random DNA Fights Back: De Novo Gene Birth...

Base by Base ·

2025/10/19

️ Episode 172: When Random DNA Fights Back: De Novo Gene Birth as Antiphage Defense In this episode of PaperCast Base by Base, we explore a PNAS study showing that short, previously nongenic DNA sequences can quickly evolve into genes that help bacteria survive phage attack, illuminating early steps of gene birth and the host–virus arms race. fileciteturn2file0 Study Highlights:The authors screened two massive libraries totaling ~100 million

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00:16:14

171: Virulence Hierarchies in the Tuberculosis...

Base by Base ·

2025/10/18

️ Episode 171: Virulence Hierarchies in the Tuberculosis Complex—What Makes Some Lineages Deadlier? In this episode of PaperCast Base by Base, we explore a new PNAS study that directly compares the virulence of Mycobacterium tuberculosis, M. bovis, and M. orygis across natural and laboratory hosts to uncover why animal-adapted lineages can be so devastating. Study Highlights:The authors performed side-by-side infections in Holstein calves and C57BL/6

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00:17:03

170: Maternal Age, Meiotic Recombination Failure, and...

Base by Base ·

2025/10/17

️ Episode 170: Maternal Age, Meiotic Recombination Failure, and Triploidy in Humans In this episode of PaperCast Base by Base, we explore how maternal age and failures of meiotic recombination shape the origins of triploid conceptions in humans, drawing on large-scale preimplantation genetic testing datasets from ICSI-derived embryos. Study Highlights:Drawing on 96,660 embryo biopsies with an independent validation cohort of 44,324, the authors quantify

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00:17:03

170: Maternal Age, Meiotic Recombination Failure, and...

Base by Base ·

2025/10/17

️ Episode 170: Maternal Age, Meiotic Recombination Failure, and Triploidy in Humans In this episode of PaperCast Base by Base, we explore how maternal age and failures of meiotic recombination shape the origins of triploid conceptions in humans, drawing on large-scale preimplantation genetic testing datasets from ICSI-derived embryos. Study Highlights:Drawing on 96,660 embryo biopsies with an independent validation cohort of 44,324, the authors quantify

en-us

00:21:13

169: Deep mutational scanning of the insulin receptor...

Base by Base ·

2025/10/16

️ Episode 169: Deep mutational scanning of the insulin receptor guides precision therapy for insulin resistance In this episode of PaperCast Base by Base, we explore how a comprehensive deep mutational scan of the human insulin receptor ectodomain maps the effects of ~14,000 missense variants on surface expression, insulin binding, and downstream signalling, creating a sequence–function atlas to improve diagnosis and treatment of severe insulin

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456 results

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