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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Episoder(444)

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 Jul 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 Jul 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 Jul 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 Jul 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 Jul 31min

413: Rpc34 WH2 dynamics in RNA polymerase III

413: Rpc34 WH2 dynamics in RNA polymerase III

Wu J-S et al., PNAS - A PNAS study using smFRET and nano-positioning triangulation maps dynamic positioning of the Rpc34 WH2 domain in yeast Pol III elongation complexes and presents a thiol-capping S...

12 Jul 15min

412: Fault Lines in Forensic Proficiency Testing

412: Fault Lines in Forensic Proficiency Testing

Scurich N et al., PNAS - A concise breakdown of a PNAS perspective that analyzes forensic proficiency testing practices using the 2023 CTS firearms test as a case study. The authors identify test desi...

12 Jul 28min

411: EKV cells and the Human Prion Assay: a scalable platform for sCJD infectivity

411: EKV cells and the Human Prion Assay: a scalable platform for sCJD infectivity

Nihata A et al., PNAS - This PNAS study describes the development of EKV, a humanized dividing cell line that propagates bona fide sporadic CJD (sCJD) prions, and the Human Prion Assay (HPA), a cell-b...

9 Jul 26min

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