422: Germline rDNA Variants and Human Complex Traits
Rodriguez-Algarra F et al., Cell Genomics - This episode examines a large-scale analysis of germline ribosomal DNA (rDNA) variation in ~500,000 UK Biobank genomes that identifies high-confidence rDNA ...
22 Heinä 20min
421: Pre-existing Cell States Predict Multi-Treatment Resistance
Schaff DL et al., Cell Genomics - Schaff et al. use multi-treatment clonal tracing combined with single-cell RNA-seq to show that rare, pre-existing transcriptional states in melanoma predict resistan...
22 Heinä 24min
420: NOTCH2NL duplications: diversity, regulation, and human-specific changes
Real TD et al., Cell Genomics - This episode examines a long-read sequencing study that resolves the complex NOTCH2NL segmental duplications on human chromosome 1, traces independent duplications in a...
21 Heinä 22min
419: The Single-Cell Pediatric Cancer Atlas
Hawkins AG et al., Cell Genomics - This episode summarizes Hawkins et al.'s presentation of the Single-Cell Pediatric Cancer Atlas (ScPCA) Portal, a publicly available resource that provides uniformly...
20 Heinä 24min
418: Translating GWAS Across Scales
Felici B et al., Cell Genomics - A concise review of how post-GWAS methods are being used to move from statistical associations to translational insights by integrating drug-target prioritization, sin...
18 Heinä 24min
417: Hidden Mosaic: Parental Postzygotic Mutations in 12,015 Trios
Garcia-Salinas OI et al., The American Journal of Human Genetics - Garcia-Salinas et al. develop a bioinformatic pipeline to recover early parental postzygotic mutations (PZMs) from standard-depth (~3...
18 Heinä 21min
416: HGT-chimeras: fusion across the tree of life
Kapoor RR et al., PNAS - A systematic screen of 319 arthropod genomes reveals genes formed by in‑frame fusion of horizontally transferred nonmetazoan sequences with endogenous metazoan regions. Many o...
18 Heinä 26min
415: ERG Unlocked: Targeting the PNT Domain with PBITE-1
PNAS - This episode breaks down a PNAS study that identifies a druggable pocket in the ERG transcription factor PNT domain and describes PBITE-1, a small-molecule probe that binds this pocket to inhib...
18 Heinä 25min
