92: Loss of CFHR5 Function Lowers AMD Risk
Nature Communications - A FinnGen-based genetic and functional study identifies CFHR5 loss-of-function variants as independently protective against age-related macular degeneration and links reduced F...
31 Jul 202516min
91: Plasma N‑Glycome, Liver Disease & Anti‑inflammatory Proteins
Sharapov S et al., Nature Communications - This episode examines a large multi-cohort GWAS of the human plasma N-glycome (N≈10,764) that maps genetic regulation of protein N‑glycosylation. The study d...
30 Jul 202517min
90: Sex, APOE-ε4 and TREM2: Who drives tau in medial temporal and neocortex?
Giorgio J et al., Nature Communications - A multi-cohort neuroimaging and genetics study (n=1,354) used PET and causal path modelling to test how sex, APOE-ε4 dosage and TREM2 rare variants influence ...
29 Jul 202515min
89: Genetics of Smell and Sex Differences
Förster F et al., Nature Communications - This GWAMA of up to 21,495 European-ancestry participants used the Sniffin' Sticks odour identification test to map genetic variants influencing identificatio...
28 Jul 202520min
88: Stable heritability of childhood Type 1 diabetes
Wei Y et al., Nature Communications - A Swedish nationwide register study of 2.93 million children born 1982–2010 found that the heritability of childhood-onset type 1 diabetes remained high (~0.83) a...
27 Jul 202518min
87: Tracing Allograft Injury with cfDNA Methylation
Nature Communications - This study used fragment-level, sequence-based DNA methylation of circulating cell-free DNA to map cellular origins of tissue damage after liver transplant. An expanded methyla...
26 Jul 202520min
86: Why Pathogenic Variant Impact Varies: Variant Effects, Polygenic Background, and Epistasis
Nature Communications - A biobank-scale study using UK Biobank and Mount Sinai BioMe exomes examines three genetic contributors to incomplete penetrance and variable severity of monogenic cardiometabo...
25 Jul 202519min
️ 85: Genomic landscape of virus-associated cancers
️ Episode 85: Genomic landscape of virus-associated cancers In this episode of PaperCast Base by Base, we explore the comparative genomic analysis of virus-positive and virus-negative tumors across ni...
24 Jul 202523min
