40: Lysosomal SLC7A11 and acidification
Provided PDF (truncated source text) et al., Cell - This episode reviews a study that examines SLC7A11 (7A11) localization to lysosomes and its impact on lysosomal acidification, cystine/cysteine bala...
9 Juni 202517min
39: Scaling whole-genome polygenic scores with VIPRS
Zabad S et al., The American Journal of Human Genetics - This episode covers Zabad et al.'s methods to scale summary-statistics-based polygenic risk score (PRS) inference to millions of variants. The ...
7 Juni 202519min
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 Juni 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 Juni 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 Juni 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 Juni 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 Juni 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 Juni 202520min
