142: PALB2 ACMG/AMP Specifications
Richardson M et al., The American Journal of Human Genetics - An international HBOP Variant Curation Expert Panel developed PALB2-specific specifications of the 2015 ACMG/AMP variant-interpretation gu...
19 Syys 202516min
141: RetiGene: a gene atlas for inherited retinal diseases
Rivolta C et al., The American Journal of Human Genetics - RetiGene is an expert‑curated, openly accessible atlas integrating variant data, bulk and single‑cell RNA‑seq, and functional annotations for...
18 Syys 202526min
140: SOD1 Variant Landscapes: Activity and Abundance Maps
Axakova A et al., The American Journal of Human Genetics - Axakova et al. produced comprehensive missense variant-effect maps for human SOD1 by assaying enzymatic activity in yeast and protein abundan...
17 Syys 202520min
139: MosCoverY: a coverage-based method to detect mosaic loss of Y
Timonina V et al., The American Journal of Human Genetics - MosCoverY is a coverage-based method that estimates mosaic loss of the Y chromosome (mLOY) from exome or whole-genome sequencing by normaliz...
16 Syys 202514min
138: Social exposome and dementia in Latin America
Migeot J et al., Nature Communications - Large multicenter study linking a multidimensional social exposome (education, food insecurity, finances, healthcare access, childhood experiences) to cognitio...
15 Syys 202519min
137: Rethinking RNA-binding proteins: riboregulation beyond the classics
Hentze MW et al., Cell - A review that examines the expansion of the RNA-binding proteome, evaluates evidence for many non-canonical RBPs, and highlights riboregulation as an emerging mechanism by whi...
14 Syys 202525min
136: Gene context drift and RECODR: predicting targets to prevent cancer relapse
Jassim A et al., Cancer Cell - This episode summarizes Jassim et al.'s introduction of RECODR, a graph-embedding pipeline that measures gene co-expression context drift from sc/snRNA-seq to reveal dri...
13 Syys 202514min
135: Micronutrients and Modern Human Evolution
Rees J et al., The American Journal of Human Genetics - Rees et al. analyze signatures of positive selection in 276 genes linked to 13 dietary micronutrients across 40 global populations (HGDP). Using...
12 Syys 202514min
