158: Interruptions in repeat expansion diseases and the SD-MMEJ hypothesis
Aston AN et al., Trends in Genetics - This opinion article reviews how short sequence interruptions within expanded tandem repeats alter somatic instability and clinical outcomes across multiple repea...
5 Loka 202522min
157: Synthetic Gametes and the Non-Identity Problem
Villalba A et al., Trends in Genetics - A concise exploration of how synthetic DNA could enable engineered haploid gametes, why that possibility intensifies the philosophical non-identity problem, and...
4 Loka 202514min
156: ZFKLO[N, ZUF and TKZLO[N Systems
Cheng Y et al., Cell - This episode summarizes a technical report focused on ZFKLO[N and its relationships with ZUF and TKZLO[N systems as presented in the provided PDF. The document documents repeate...
3 Loka 202517min
155: eIF3A/EIF3B haploinsufficiency and a syndromic cause of CHD
Erkut E et al., The American Journal of Human Genetics - This episode examines an international cohort of 18 individuals with de novo or loss-of-function variants in EIF3A or EIF3B who present with co...
2 Loka 202515min
154: Multiple-testing corrections in IBD-based selection scans
Temple SD et al., The American Journal of Human Genetics - Temple and Browning model correlations of identity-by-descent (IBD) rates to derive analytical and simulation-based genome-wide significance ...
1 Loka 202520min
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
