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 Heinä 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 Heinä 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 Heinä 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 Heinä 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 Heinä 202523min
84: NR6A1 and a newly described oculo‑vertebral‑renal (OVR) syndrome
Nature Communications - Genome sequencing identified rare NR6A1 variants in families with colobomatous microphthalmia, missing vertebrae and congenital kidney anomalies. In silico modeling, cell assay...
23 Heinä 202517min
83: Dup15q in Focus: Single-cell traces of metabolic and synaptic change
Perez Y et al., Nature Communications - This episode reviews a single-cell and spatial transcriptomic study of dup15q syndrome using patient postmortem cortex and hiPSC-derived cortical organoids. The...
22 Heinä 202525min
82: JAK2 inhibition drives RAS clonal selection in myelofibrosis
Maslah N et al., Nature Communications - Translational study showing ruxolitinib and JAK2 suppression select for RAS pathway–mutant clones in myelofibrosis, enhancing their fitness via MAPK activation...
21 Heinä 202519min
