Latest Episodes
Episode 72
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July 11, 2025
72: POC5 ciliopathy: retinal, endocrine and neuromuscular syndrome
Vulto-van Silfhout AT et al., Genetics in Medicine - A cohort study of twelve families shows that bi-allelic loss-of-function variants in POC5 cause a...
00:19:44
Episode 71
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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...
00:25:16
Episode 70
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July 09, 2025
70: MSA and ternary-code DNA methylation
Goldberg DC et al., Cell Genomics - This episode examines the methylation screening array (MSA), a compact Infinium BeadChip optimized for trait-associated and cell-type...
00:19:10
Episode 69
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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...
00:16:15
Episode 68
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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...
00:16:04
Episode 67
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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...
00:14:47