Latest Episodes
Episode 66
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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...
00:20:02
Episode 65
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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...
00:18:37
Episode 64
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July 03, 2025
64: Pisces: Multi-modal augmentation for drug combination prediction
Xu H et al., Cell Genomics - This episode covers Pisces, a machine-learning framework that augments sparse drug-pair datasets by creating multiple modality-based views...
00:23:10
Episode 63
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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...
00:23:10
Episode 62
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July 01, 2025
62: When Origins Fail: Pre-RC Loss and PARP Inhibitor Resistance
Pappas K et al., PNAS - A genome-wide CRISPR screen in Brca2‑deficient murine prostate organoids identifies loss-of-function in DNA prereplication complex genes (CDT1, CDC6,...
00:17:00
Episode 61
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June 30, 2025
️ 61: Monkeypox on the Frontline — Developing Brazil’s First qPCR Diagnostic Assay
️ Episode 61: Monkeypox on the Frontline — Developing Brazil’s First qPCR Diagnostic Assay In this episode of Base by Base, we trace the...
00:22:43