Podcast Cover

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...more

Hosted by

Latest Episodes

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

Episode 420

July 21, 2026

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...

Play

00:22:05

419: The Single-Cell Pediatric Cancer Atlas

Episode 419

July 20, 2026

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...

Play

00:24:44

418: Translating GWAS Across Scales

Episode 418

July 18, 2026

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...

Play

00:24:15

417: Hidden Mosaic: Parental Postzygotic Mutations in 12,015 Trios

Episode 417

July 18, 2026

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...

Play

00:21:29

416: HGT-chimeras: fusion across the tree of life

Episode 416

July 18, 2026

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...

Play

00:26:59

415: ERG Unlocked: Targeting the PNT Domain with PBITE-1

Episode 415

July 18, 2026

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,...

Play

00:25:00

Next