️ 76: Whole-genome Ancestry of an Old Kingdom Egyptian
️ Episode 76: Whole-genome Ancestry of an Old Kingdom Egyptian In this episode of PaperCast Base by Base, we explore the first 2× coverage whole-genome sequence recovered from a high-status individual...
15 Jul 202513min
75: How Metabolism Shapes Enzyme Structures Over 400 Million Years
Lemke O et al., Nature - A deep structural and evolutionary analysis of 11,269 enzyme structures across Saccharomycotina reveals how metabolic context sculpts protein architecture. The study integrate...
14 Jul 202514min
74: Benchmarking TCR-epitope predictors with ePytope-TCR
Drost F et al., Cell Genomics - Drost et al. integrated 21 pre-trained sequence-based TCR-epitope predictors into ePytope-TCR and benchmarked them on a viral single-cell repertoire and deep mutational...
13 Jul 202520min
73: Family history and genetics in dementia
König T et al., Genetics in Medicine - A retrospective study of 701 memory clinic patients tested whether stratifying by age at onset and family history enriches for diagnostically relevant genetic fi...
12 Jul 202515min
72: POC5 ciliopathy: retinal, endocrine and neuromuscular syndrome
Vulto-van Silfhout AT et al., Genetics in Medicine - A cohort study of twelve families shows that bi-allelic loss-of-function variants in POC5 cause a multisystem syndrome characterized by rod-cone dy...
11 Jul 202519min
71: ELFN1 Deficiency: Mechanisms and Clinical Spectrum
Dore R et al., Genetics in Medicine - This episode reviews a multi-center study that defines ELFN1 deficiency as a recessive neurodevelopmental disorder. The authors report new patients with biallelic...
10 Jul 202525min
70: MSA and ternary-code DNA methylation
Goldberg DC et al., Cell Genomics - This episode examines the methylation screening array (MSA), a compact Infinium BeadChip optimized for trait-associated and cell-type CpGs and compatible with match...
9 Jul 202519min
69: PLK1 overexpression exposes an IGF2BP2 vulnerability
Cunningham C et al., Cell Genomics - This study used orthotopic breast PDX models, pooled and arrayed CRISPR/Cas9 screens, and Direct‑Capture Perturb‑seq to search for synthetic‑dosage‑lethal (SDL) pa...
8 Jul 202516min
