38: Bat ancestors, recombination, and rapid travel: origins of SARS-CoV and SARS-CoV-2
Pekar JE et al., Cell - Recombination-aware, whole-genome analyses of sarbecoviruses show that genomic fragments very closely related to SARS-CoV and SARS-CoV-2 circulated in horseshoe bats only years...
7 Kesä 202520min
37: Prioritizing missense variants with chemoproteomic-detected amino acids
Palafox MF et al., The American Journal of Human Genetics - This episode explores a multi-omic study showing that mass spectrometry–based chemoproteomic detection of cysteine, lysine, and tyrosine (Cp...
6 Kesä 202523min
36: Bi-allelic POPDC2 variants and a recessive cardiac syndrome
Nicastro M et al., The American Journal of Human Genetics - This episode covers Nicastro et al. (2025), who identify bi-allelic POPDC2 variants in four families causing a recessive cardiac syndrome ma...
6 Kesä 202518min
35: Tracing CCR5Δ32 through ancient genomes
This episode summarizes a study that genotyped the CCR5Δ32 deletion in ancient and modern human genomes, compared genotyping methods for low‑coverage ancient DNA, reconstructed CCR5 haplotypes, and mo...
6 Kesä 202518min
34: Pegtibatinase in Classical Homocystinuria (COMPOSE)
Ficicioglu C et al., Genetics in Medicine (2025) 27, 101456 - Phase 1/2 COMPOSE trial tested subcutaneous pegtibatinase in 24 participants with classical homocystinuria; treatment was generally well t...
6 Kesä 202522min
33: Targeting mis-splicing-derived neoantigens in splicing factor mutant leukemias
Kim WJ et al., Cell - This episode examines a study that identifies recurrent neoantigens produced by SRSF2 and ZRSR2 splicing factor mutations in myeloid leukemias, isolates cognate TCRs, and demonst...
5 Kesä 202520min
32: Idursulfase beta improves mobility and reduces organomegaly in MPS II
Idursulfase Beta — A New Therapeutic Option for MPS II with Strong Clinical Evidence Article title:Efficacy and safety of idursulfase beta in the treatment of mucopolysaccharidosis II: a phase 3, two...
5 Kesä 202524min
31: Non-canonical FBN1 splicing in the 100k Genomes Project
Walker S et al., Genetics in Medicine - Genome sequencing of 78,195 participants in the 100,000 Genomes Project identified ultra-rare non-canonical FBN1 splice variants enriched among individuals recr...
5 Kesä 202533min
