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

401: LDB1 variants split neurodevelopmental outcomes by location and mechanism

Episode 401

•

June 23, 2026

401: LDB1 variants split neurodevelopmental outcomes by location and mechanism

Fluri R et al., The American Journal of Human Genetics - This episode examines a cohort study of 16 individuals with de novo LDB1...

Play

00:24:28

400: Complete chromosome 21 centromere sequencing and Down syndrome

Episode 400

•

June 23, 2026

400: Complete chromosome 21 centromere sequencing and Down syndrome

Mastrorosa F et al., The American Journal of Human Genetics - Long-read assemblies and epigenetic mapping of chromosome 21 centromeres in families with trisomy...

Play

00:22:30

399: Ménière disease: inner ear development and retinoic acid pathways

Episode 399

•

June 22, 2026

399: Ménière disease: inner ear development and retinoic acid pathways

Shi Z et al., The American Journal of Human Genetics - A large GWAS meta-analysis across five biobanks (8,969 cases, 1,962,542 controls) identifies five...

Play

00:21:44

398: Modeling JAK2V617F Clonal Expansion in the General Population

Episode 398

•

June 21, 2026

398: Modeling JAK2V617F Clonal Expansion in the General Population

Snyder J et al., Proceedings of the National Academy of Sciences (PNAS) - Longitudinal VAF measurements from 67 JAK2V617F-positive participants in the Danish GESUS...

Play

00:24:52

397: SciPhy: Bayesian phylogenetics for sequential genetic lineage tracing

Episode 397

•

June 20, 2026

397: SciPhy: Bayesian phylogenetics for sequential genetic lineage tracing

Seidel et al., Nature Communications - SciPhy is a BEAST2-integrated Bayesian framework that models sequential CRISPR‑based insertion edits to jointly infer time-scaled single-cell lineage...

Play

00:23:27

396: Physical homology recognition between DNA duplexes

Episode 396

•

June 18, 2026

396: Physical homology recognition between DNA duplexes

Stannard A et al., Proceedings of the National Academy of Sciences (PNAS) - This episode summarizes a PNAS study that uses a FRET-responsive DNA...

Play

00:23:26