8: A structural variation reference for medical and population genetics
Collins RL et al et al., Nature - This episode reviews gnomAD-SV, a sequence-resolved reference of structural variants from 14,891 genomes that catalogs 433,371 SVs (335,470 high-quality) and integrat...
17 Apr 202524min
7: Using high-resolution variant frequencies to empower clinical genome interpretation
Whiffin N et al., Genetics in Medicine - A statistical framework uses large reference allele-frequency data (ExAC) together with disease prevalence, heterogeneity, penetrance, and sampling variance to...
17 Apr 202519min
6: TRMT1, tRNA m2,2G, and Intellectual Disability
Efthymiou S et al., The American Journal of Human Genetics - A global cohort study identifies bi-allelic TRMT1 variants that cause developmental delay and intellectual disability, links those variants...
17 Apr 202526min
5: Promoter Footprints Predicting Preterm Birth
Guo Z et al., PLOS Medicine - Large multi-center case-control study shows promoter-region nucleosome footprints in plasma cell-free DNA can predict spontaneous preterm birth. The authors developed PTe...
16 Apr 202514min
4: How CXCL12 Shapes Coronary Dominance
Rios Coronado PE et al., Cell - A multi-ancestry GWAS in >61,000 veterans identifies CXCL12 as a top locus influencing whether the right or left coronary tree supplies the posterior heart; fetal expre...
16 Apr 202517min
3: Data-driven heuristics for splice-altering variants
Sullivan P et al., The American Journal of Human Genetics - A concise walkthrough of data-driven heuristics and a splicing checklist derived from large-scale exon, branchpoint, and experimentally vali...
16 Apr 202522min
2: Tube additives and cfDNA integrity: why EDTA still leads
Barra G et al., LabMed (2025) 2, 4 - A comparative study of blood collection tubes (EDTA, citrate, heparin, serum) from 15 healthy volunteers showing how anticoagulants affect baseline cell-free DNA, ...
16 Apr 202516min
1: Structure-Informed Computational Evidence Sharpens BRCA1 Missense Classification
Ramadane-Morchadi L et al., The American Journal of Human Genetics - This episode reviews a study that evaluates how structure-based computational scores (AlphaMissense, FoldX DDG using PDB or AlphaFo...
15 Apr 202520min
