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

330: 5ULTRA: Mapping 5′ UTR variants that alter protein translation

Episode 330

March 30, 2026

330: 5ULTRA: Mapping 5′ UTR variants that alter protein translation

Chaldebas M et al., The American Journal of Human Genetics - Chaldebas et al. present 5ULTRA, a computational pipeline that integrates uORF databases, Kozak-motif...

Play

00:22:56

329: Large future genetic diversity losses predicted despite habitat protection

Episode 329

March 30, 2026

329: Large future genetic diversity losses predicted despite habitat protection

Mualim KS et al., Proceedings of the National Academy of Sciences - This study develops spatiotemporal population-genetic models calibrated with genomic data to predict...

Play

00:22:16

328: Variant selection boosts R2 for haptoglobin (HP) in cis‑Mendelian randomization

Episode 328

March 27, 2026

328: Variant selection boosts R2 for haptoglobin (HP) in cis‑Mendelian randomization

Zhou A et al., Human Genetics and Genomics Advances - Comparing LD‑pruning, COJO, SuSiE and PCA in haptoglobin (HP) cis‑region data, the study finds...

Play

00:23:39

327: Bi-allelic ATG12 variants impair ATG12-ATG5 conjugation, LC3 lipidation and neural development

Episode 327

March 27, 2026

327: Bi-allelic ATG12 variants impair ATG12-ATG5 conjugation, LC3 lipidation and neural development

Lambton J et al., The American Journal of Human Genetics - Bi-allelic ATG12 variants disrupt ATG12‑ATG5 conjugation and LC3 lipidation, impairing autophagy in patient...

Play

00:19:17

326: DUO-1 protects REC-8 cohesin and synaptonemal complex stability in Caenorhabditis elegans meiosis

Episode 326

March 25, 2026

326: DUO-1 protects REC-8 cohesin and synaptonemal complex stability in Caenorhabditis elegans meiosis

Strand LG et al., Proc. Natl. Acad. Sci. U.S.A - In C. elegans germline, the deubiquitinase DUO-1 is required for assembly and active maintenance...

Play

00:24:34

325: cis-pcQTL mapping reveals allelic proxitropy across neighboring human genes

Episode 325

March 24, 2026

325: cis-pcQTL mapping reveals allelic proxitropy across neighboring human genes

Lawrence et al., The American Journal of Human Genetics - Using a cis-principal-component (pcQTL) approach in human GTEx tissues, the authors uncover novel multi-gene...

Play

00:23:57