153: Skeletal muscle eQTLs map cardiometabolic genes
Wilson EPW et al., The American Journal of Human Genetics - This episode covers a skeletal muscle eQTL meta-analysis of 1,002 individuals that discovered 18,818 conditionally distinct regulatory signa...
30 Syys 202515min
152: Hereditary Alpha Tryptasemia: Single‑Well ddPCR Validation
Alheraky A et al., Clinical Chemistry - This episode reviews a validation study of a single-well multiplex ddPCR assay that quantifies TPSAB1 α- and β-tryptase copy numbers to diagnose hereditary alph...
29 Syys 202516min
151: EQA of ctDNA Molecular Tumor Profiling in the COIN Consortium
van der Leest P et al., Clinical Chemistry - An interlaboratory external quality assessment across 16 laboratories in the Dutch COIN consortium evaluated how diverse (pre)analytical workflows and anal...
28 Syys 202516min
150: Patrilineal segmentary systems provide a peaceful explanation for the post‑Neolithic Y‑chromosome bottleneck
Guyon L et al., Nature Communications - Forward-time simulations and coalescent inference show that variance in reproductive success among patrilineal descent groups combined with lineal fission can p...
27 Syys 202517min
149: Tracing ancient Y chromosome variation
Kivisild T et al., Hum Genet (2017) 136:529–546 - Review of how high-throughput sequencing of ancient human remains has enabled genome-scale study of male-specific Y chromosome variation, the methodol...
26 Syys 202515min
148: CHEK2 splice-site variants: minigene dissection
Sanoguera-Miralles L et al., Clinical Chemistry - This episode examines a minigene-based functional study of 52 CHEK2 splice-site variants from the BRIDGES project, reporting widespread splice disrupt...
25 Syys 202514min
147: Full-length ABO Haplotype Sequencing and Variant Resolution
Ying Y et al., Clinical Chemistry 71:4 (2025) 510–519 - This episode reviews a Clinical Chemistry study that developed an improved one-step ultra-long-range PCR with PCR suppression primers and PacBio...
24 Syys 202515min
146: Automated, Decentralized cfDNA Profiling for Targetable and Resistance Alterations
Chan HT et al et al., Clinical Chemistry - This study evaluates an automated, decentralized cfDNA NGS workflow (Oncomine Precision Assay GX with the Genexus system) in 298 patients with advanced solid...
23 Syys 202515min
