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(443)

426: ProtoCloud — Prototypical self-explaining model for single-cell analysis

426: ProtoCloud — Prototypical self-explaining model for single-cell analysis

Guo K et al., Cell Genomics - ProtoCloud is a self-explaining deep generative model that embeds single cells around cell-type-specific prototypes to deliver accurate, uncertainty-aware cell type annot...

23 Juli 16min

425: BEAM: Bayesian reconstruction of metastatic migration histories

425: BEAM: Bayesian reconstruction of metastatic migration histories

Staklinski SJ et al., Cell Genomics 6, 101193 (2026) - This episode explores BEAM, a Bayesian framework built on BEAST 2 that jointly infers cell-lineage phylogenies and tissue-migration graphs from C...

23 Juli 23min

424: LECA's Ancient Interactome and Modern Disease

424: LECA's Ancient Interactome and Modern Disease

Cox RM et al., Cell Genomics 6, 101254 - Cox et al. reconstruct a conserved protein interaction network for the last eukaryotic common ancestor using >26,000 mass spectrometry experiments across 31 sp...

23 Juli 12min

423: How GRN Topology Shapes the Genetic Architecture of Expression

423: How GRN Topology Shapes the Genetic Architecture of Expression

Aguirre M et al., Cell Genomics - Aguirre et al. use simulated gene regulatory networks and a linear structural equation model to show how sparsity, modularity, and hub regulators shape the genome-wid...

22 Juli 25min

422: Germline rDNA Variants and Human Complex Traits

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 Juli 20min

421: Pre-existing Cell States Predict Multi-Treatment Resistance

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 Juli 24min

420: NOTCH2NL duplications: diversity, regulation, and human-specific changes

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 Juli 22min

419: The Single-Cell Pediatric Cancer Atlas

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 Juli 24min

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