Latest Episodes
Episode 8
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April 17, 2025
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...
00:24:51
Episode 7
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April 17, 2025
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...
00:19:10
Episode 6
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April 17, 2025
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...
00:26:15
Episode 5
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April 16, 2025
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....
00:14:43
Episode 4
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April 16, 2025
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...
00:17:11
Episode 3
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April 16, 2025
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...
00:22:42