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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Jaksot(462)

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 Heinä 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 Heinä 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 Heinä 24min

418: Translating GWAS Across Scales

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

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

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

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

414: Durability of Cas9 Gene Drives in Anopheles: A 2‑Year Cage Study

414: Durability of Cas9 Gene Drives in Anopheles: A 2‑Year Cage Study

Carballar-Lejarazúa R et al., PNAS (2026) - This episode summarizes a 2-year, 35-generation multireplicate cage trial evaluating three autonomous Cas9/gRNA gene-drive strains (AcTP13, AcTP43 in Anophe...

17 Heinä 31min

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