Base by Base

Base by Base

Base by Base explores advances in genetics and genomics, with a focus on gene-disease associations, variant interpretation, protein structure, and insights from exome and genome sequencing. Each episode breaks down key studies and their clinical relevance—one base at a time. Powered by AI, Base by Base offers a new way to learn on the go. Special thanks to authors who publish under CC BY 4.0, making open-access science faster to share and easier to explore.

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Avsnitt(440)

80: Genome sequencing predicts outcomes after congenital cardiac surgery

80: Genome sequencing predicts outcomes after congenital cardiac surgery

Watkins WS et al et al., Nature Communications - A prospective observational study of 2,253 Pediatric Cardiac Genomics Consortium patients shows that whole-exome sequencing combined with AI genome int...

19 Juli 202516min

79: Cross-population GWAS and Proteomics Reveal AF Mechanisms and Better Risk Prediction

79: Cross-population GWAS and Proteomics Reveal AF Mechanisms and Better Risk Prediction

Nature Communications - A large cross-population GWAS meta-analysis (168,007 AF cases) integrated with proteomic data identifies hundreds of AF loci, implicates cardiac and TGF-β pathways, finds causa...

18 Juli 202517min

78: Unloading Lipids: TTYH2 Meets APOE

78: Unloading Lipids: TTYH2 Meets APOE

Sukalskaia A et al., Nature - This Nature study identifies APOE as an interaction partner of human TTYH2, maps their endosomal colocalization and binding site by cryo-EM, and shows that TTYH2 accelera...

17 Juli 202514min

77: REX: a range extender for long-distance enhancer activity

77: REX: a range extender for long-distance enhancer activity

Bower G et al., Nature - This paper identifies a conserved cis element, REX, and a [C/T]AATTA homeodomain motif signature that are necessary and sufficient to convert short- and medium-range limb enha...

16 Juli 202516min

️ 76: Whole-genome Ancestry of an Old Kingdom Egyptian

️ 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 Juli 202513min

75: How Metabolism Shapes Enzyme Structures Over 400 Million Years

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 Juli 202514min

74: Benchmarking TCR-epitope predictors with ePytope-TCR

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 Juli 202520min

73: Family history and genetics in dementia

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 Juli 202515min

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