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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

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Latest Episodes

306: SAXO6 loss-of-function in photoreceptor cilia links a microtubule inner protein to late-onset retinal dystrophy

Episode 306

March 03, 2026

306: SAXO6 loss-of-function in photoreceptor cilia links a microtubule inner protein to late-onset retinal dystrophy

Moye AR et al., The American Journal of Human Genetics - Biallelic loss-of-function variants in SAXO6, a microtubule inner protein of photoreceptor cilia, cause...

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00:25:09

305: Human cis-regulatory variants dissected by MPRA at single-nucleotide resolution

Episode 305

March 02, 2026

305: Human cis-regulatory variants dissected by MPRA at single-nucleotide resolution

Siraj L et al., Nature, doi:10.1038/s41586-026-10121-6 - Using MPRA in five human cell types, the authors assayed 221,412 fine-mapped variants and identified 13,121 trait-associated...

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00:22:24

304: Patrilineal Y‑chromosome drive in a Utah pedigree (67% male offspring)

Episode 304

March 02, 2026

304: Patrilineal Y‑chromosome drive in a Utah pedigree (67% male offspring)

Baldwin-Brown JG et al., Annual Review of Ecology and Systematics - Bayesian analysis of 76,445 Utah Population Database pedigrees identifies a patrilineal Y‑chromosome lineage...

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00:18:13

303: Short-read sequencing and genome skimming for biodiversity monitoring and phylogenomics

Episode 303

February 28, 2026

303: Short-read sequencing and genome skimming for biodiversity monitoring and phylogenomics

Bleidorn C et al., Trends in Genetics, 42 (2026) 137-149. doi:10.1016/j.tig.2025.09.001 - This review shows how short-read shotgun sequencing and genome skimming recover organellar...

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00:29:00

302 auf Deutsch: SMN1/SMN2-Spleißen und Mechanismen im letzten Exon — Hommage an Brunhilde Wirth

Episode 302

February 27, 2026

302 auf Deutsch: SMN1/SMN2-Spleißen und Mechanismen im letzten Exon — Hommage an Brunhilde Wirth

Ein Hommage-Dossier, das die wissenschaftliche Laufbahn von Prof. Brunhilde Wirth würdigt und Arbeiten zum alternativen Spleißen von SMN1/SMN2 hervorhebt. Im Fokus stehen Studien aus...

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00:13:58

302: SMN1/SMN2 splicing and last-exon mechanisms — Tribute to Brunhilde Wirth

Episode 302

February 26, 2026

302: SMN1/SMN2 splicing and last-exon mechanisms — Tribute to Brunhilde Wirth

The Last Exon Light: A Tribute Dossier Celebrating the Scientific Career of Prof. Dr. Brunhilde Wirth - Special tribute episode honoring Prof. Dr. Brunhilde...

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00:24:12

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