113: Joint cohort genomics cracks ultra‑rare disease cases
Nadimpalli Kobren S et al., Nature Communications - The Undiagnosed Diseases Network (UDN) applied joint whole‑genome analysis across 4,236 individuals and introduced RaMeDiES, an analytical framework...
21 Elo 202522min
112: Local Genetic Sex Differences in Quantitative Traits
️ Episode 112: Local Genetic Sex Differences in Quantitative Traits In this episode of PaperCast Base by Base, we explore how genetic differences between males and females are distributed across the ...
20 Elo 202521min
111: HANCOCK: Multimodal Dataset for Precision Oncology in Head and Neck Cancer
Dörrich M et al., Nature Communications - This episode summarizes HANCOCK, a monocentric multimodal dataset of 763 head and neck cancer patients combining demographics, structured pathology and blood ...
19 Elo 202517min
110: Rare coding variants implicate STAG1 and ZNF136 in schizophrenia
Chick SL et al et al., Nature Communications - Largest exome-sequencing meta-analysis to date (28,898 cases, 103,041 controls, 3,444 trios) identifies STAG1 and ZNF136 at exome-wide significance and s...
18 Elo 202520min
109: Autocrine Interferon Poisoning: ADAR1–BRCA Synthetic Lethality
️ Episode 109: Autocrine Interferon Poisoning: ADAR1–BRCA Synthetic Lethality In this episode of PaperCast Base by Base, we explore how loss of the RNA editor ADAR1 becomes lethal to BRCA1/2‑mutant c...
17 Elo 202518min
108: Epigenome Editing Reverses HBG Silencing
Bell HW et al et al., Nature Communications - This study shows that CpG methylation at proximal HBG promoters causally enforces perinatal silencing and that targeted epigenome editing can reverse that...
16 Elo 202520min
107: Host genetics of endodontic infections: FinnGen GWAS
Salminen A et al., Nature Communications - A large GWAS in 485,230 FinnGen participants (132,124 cases) identified genetic loci associated with pulpal and apical diseases. The study highlights strong ...
15 Elo 202519min
106: Decoding Cortical Transcriptomes: GABAA Subunit Classes and Pharmacotranscriptomics
Ecker C et al., Nature Communications - This episode reviews a study that develops a surface-based, vertex-level framework for genome-wide imaging transcriptomics using spatial interpolation of the Al...
14 Elo 202519min
