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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

️ 74: Benchmarking T Cell Receptor–Epitope Predictors with ePytope-TCR

Episode 74

July 13, 2025

️ 74: Benchmarking T Cell Receptor–Epitope Predictors with ePytope-TCR

️ Episode 74: Benchmarking T Cell Receptor–Epitope Predictors with ePytope-TCR In this episode of PaperCast Base by Base, we explore a unified computational framework...

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00:20:10

️ 73: Assessing Family History in Dementia Genetics: Enhancing Diagnostic Yield

Episode 73

July 12, 2025

️ 73: Assessing Family History in Dementia Genetics: Enhancing Diagnostic Yield

️ Episode 73: Assessing Family History in Dementia Genetics: Enhancing Diagnostic Yield In this episode of PaperCast Base by Base, we explore a study...

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00:15:55

️ 72: The POC5 Syndrome — A Ciliopathy Linking Retina, Muscles and Metabolism

Episode 72

July 11, 2025

️ 72: The POC5 Syndrome — A Ciliopathy Linking Retina, Muscles and Metabolism

️ Episode 72: The POC5 Syndrome — A Ciliopathy Linking Retina, Muscles and Metabolism In this episode of Base by Base, we explore a...

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00:19:44

71: ELFN1 Deficiency: Mechanisms and Clinical Spectrum

Episode 71

July 10, 2025

71: ELFN1 Deficiency: Mechanisms and Clinical Spectrum

Dore R et al., Genetics in Medicine - This episode reviews a multi-center study that defines ELFN1 deficiency as a recessive neurodevelopmental disorder. The...

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00:25:16

70: Encoding‑corrupted article (unable to extract)

Episode 70

July 09, 2025

70: Encoding‑corrupted article (unable to extract)

Goldberg D et al., Cell Genomics - This episode reviews an attached article PDF that was heavily encoding‑corrupted and largely unreadable. The file contains...

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00:19:10

69: PLK1 overexpression exposes an IGF2BP2 vulnerability

Episode 69

July 08, 2025

69: PLK1 overexpression exposes an IGF2BP2 vulnerability

Cunningham C et al., Cell Genomics - This study used orthotopic breast PDX models, pooled and arrayed CRISPR/Cas9 screens, and Direct‑Capture Perturb‑seq to search...

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00:16:15