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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

68: Indels Enable One-Step Antiviral Innovation in TRIM5a

Episode 68

July 07, 2025

68: Indels Enable One-Step Antiviral Innovation in TRIM5a

Tenthorey JL et al., Cell Genomics - This episode examines a study showing that insertion/deletion mutations (indels) in the v1 loop of the antiviral...

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00:16:04

67: M-REGLE: Multimodal AI improves genetic prediction of cardiovascular traits

Episode 67

July 06, 2025

67: M-REGLE: Multimodal AI improves genetic prediction of cardiovascular traits

Zhou Y et al., The American Journal of Human Genetics - This episode explores M-REGLE, a multimodal deep‑learning pipeline that jointly learns representations from...

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00:14:47

66: Mainstreaming Clinical Genetic Testing: A Conceptual Framework

Episode 66

July 05, 2025

66: Mainstreaming Clinical Genetic Testing: A Conceptual Framework

Mackley MP et al., Genetics in Medicine - This episode summarizes a consensus-derived framework for mainstreaming clinical genetic testing developed from a Canadian expert...

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00:20:02

65: Hidden splice variants in FBN1 — genome sequencing finds Marfan diagnoses

Episode 65

July 04, 2025

65: Hidden splice variants in FBN1 — genome sequencing finds Marfan diagnoses

Walker S et al., Genetics in Medicine - This episode reviews a systematic analysis of ultra-rare FBN1 variants in the 100,000 Genomes Project using...

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00:18:37

64: A Garbled PDF

Episode 64

July 03, 2025

64: A Garbled PDF

Xu H et al., Cell Genomics - This episode examines a heavily corrupted PDF provided as the source. The text is dominated by recurring,...

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00:23:10

63: Discovery vs. Dilution: How Sampling Breadth Shapes Rare Variant Discovery

Episode 63

July 02, 2025

63: Discovery vs. Dilution: How Sampling Breadth Shapes Rare Variant Discovery

Steiner MC et al., PNAS - This episode examines a theoretical and empirical study showing how the geographic breadth of sampling affects discovery and...

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00:23:10