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 protein TRIM5a can create new viral specificities ...
7 Jul 202516min
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 ECG and PPG waveforms to boost GWAS ...
6 Jul 202514min
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 focus group. The framework d...
5 Jul 202520min
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 SpliceAI, RNA assays and minigene tests. The study i...
4 Jul 202518min
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 per drug to improve prediction o...
3 Jul 202523min
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 observed frequencies of deleterious rare variants...
2 Jul 202523min
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, DBF4) as a reversion‑indep...
1 Jul 202517min
️ 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 rapid development and rigorous validation of the first laborato...
30 Jun 202522min
