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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...more

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Latest Episodes

180: Leveraging Global Genetics Resources for Equitable Polygenic Prediction

Episode 180

October 27, 2025

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...

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00:22:11

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

Episode 179

October 26, 2025

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,...

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00:16:49

178: TP53 Reduced Penetrance: Predictive Features and Clinical Implications

Episode 178

October 25, 2025

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...

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00:15:59

177: Biallelic MCM8/MCM9 Variants: From Hypogonadism to Cancer Predisposition

Episode 177

October 24, 2025

177: Biallelic MCM8/MCM9 Variants: From Hypogonadism to Cancer Predisposition

️ 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...

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00:17:04

176: FAHD1 and the Pyruvate-Driven Evolution of Hepatocellular Carcinoma

Episode 176

October 23, 2025

176: FAHD1 and the Pyruvate-Driven Evolution of Hepatocellular Carcinoma

️ 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...

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00:19:32

175: Predictive Prioritization of Pancreatic Enhancers Linked to Disease Risk

Episode 175

October 22, 2025

175: Predictive Prioritization of Pancreatic Enhancers Linked to Disease Risk

️ Episode 175: Predictive Prioritization of Pancreatic Enhancers Linked to Disease Risk In this episode of PaperCast Base by Base, we explore how enhancer–promoter...

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00:19:13