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 multisystem syndrome characterized by rod-cone dy...
11 Heinä 202519min
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 authors report new patients with biallelic...
10 Heinä 202525min
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 CpGs and compatible with match...
9 Heinä 202519min
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 for synthetic‑dosage‑lethal (SDL) pa...
8 Heinä 202516min
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 Heinä 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 Heinä 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 Heinä 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 Heinä 202518min
