345: Genes of Prosody: Rhythm, Music, and Reading
Scartozzi AC et al., Human Genetics and Genomics Advances - This episode reviews a GWAS of speech rhythm (prosody) perception using the TOPsy task (n≈1,501 European-ancestry), reporting 14 suggestive ...
17 Apr 25min
344: Homozygous TNNI3 p.Arg136* and severe pediatric restrictive cardiomyopathy
Kühnisch J et al., Human Genetics and Genomics Advances 7, 100598 (2026) - Case report and tissue analysis linking a homozygous TNNI3 nonsense variant (c.406C>T; p.Arg136*) to early-onset, treatment-r...
17 Apr 23min
343: From Cats to Dogs: The Parvovirus Host Jump
López-Astacio RA et al., PNAS - Analysis of 60 years of feline panleukopenia virus genomes traces the origins of canine parvovirus, identifies vaccine-derived sequences, and documents distinct evoluti...
15 Apr 13min
342: Modular MPRA Reveals Context-Dependent Regulation at T2D Loci
Tovar A et al., Human Genetics and Genomics Advances - This episode examines a study that used a modular MPRA to test ~11,656 genomic fragments from T2D- and metabolic trait-associated regions in panc...
14 Apr 17min
341: The Genetic Lottery and the Value of an Extra Year of School
Widding-Havneraas T et al., PNAS - This study uses genetic variation related to educational attainment as a quasi-experimental instrument (Mendelian randomization) together with Norwegian registry dat...
13 Apr 29min
340: Microexon Control of Behavior — PTPRD Splicing
Imai A et al., Proceedings of the National Academy of Sciences (PNAS) - This paper shows that alternative splicing of a 12-nt microexon (meB) in Ptprd is regulated by a genetic intronic enhancer and a...
12 Apr 17min
339: cxt: A language model for population genetics
Korfmann K et al., Proceedings of the National Academy of Sciences (PNAS) - This episode examines cxt, a decoder-only transformer that performs next-coalescence prediction by translating local mutatio...
11 Apr 22min
338: WDHD1 and Microcephalic Primordial Dwarfism
Tibbe D et al., The American Journal of Human Genetics - This study identifies bi-allelic hypomorphic WDHD1 variants in 17 subjects with a clinical spectrum from fetal lethality to microcephalic primo...
10 Apr 21min
