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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

293: IndeLLM (ESM2) zero-shot scoring and Siamese transfer learning for in-frame indel prediction (MCC 0.77)

Episode 293

February 17, 2026

293: IndeLLM (ESM2) zero-shot scoring and Siamese transfer learning for in-frame indel prediction (MCC 0.77)

Gracia Carmona O et al., Patterns. 7 ( - IndeLLM uses protein language models (ESM2) to score in-frame indels and a compact Siamese transfer-learning...

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00:17:53

292: INS R6C signal-peptide defect reduces preproinsulin ER translocation in iPSC-derived βcells

Episode 292

February 17, 2026

292: INS R6C signal-peptide defect reduces preproinsulin ER translocation in iPSC-derived βcells

Tong Y et al., EMBO Molecular Medicine - Patient data, population genetics and iPSC-derived βcell models show INS R6C impairs preproinsulin ER translocation and...

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00:17:09

291: Dated gene duplications show Asgard archaeal host complexity before mitochondrial endosymbiosis

Episode 291

February 15, 2026

291: Dated gene duplications show Asgard archaeal host complexity before mitochondrial endosymbiosis

Kay CJ et al., Nature 650, 129–140 ( - Relaxed-clock dating of pre-LECA gene duplications in Asgard archaeal and alphaproteobacterial lineages shows a complex...

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00:06:39

290: SMN1 p.Arg288AlafsTer5 exon 7 deletions evade PCR newborn screening yet yield functional SMN isoform

Episode 290

February 14, 2026

290: SMN1 p.Arg288AlafsTer5 exon 7 deletions evade PCR newborn screening yet yield functional SMN isoform

Wirth B et al., The American Journal of Human Genetics - Two SMN1 exon 7 4-bp deletions (p.Arg288AlafsTer5) evade standard PCR newborn screening but...

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00:19:31

289: MinION detection of chimeric reads in murine Ifna/Ifnb and Actb amplicons

Episode 289

February 13, 2026

289: MinION detection of chimeric reads in murine Ifna/Ifnb and Actb amplicons

White R et al., F1000Research - Nanopore MinION sequencing of murine Ifna, Ifnb and Actb amplicons identified post-amplification chimeric reads during library ligation, with...

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00:16:18

288: Cryo-EM of rat cerebellar α1/α6 GABAA receptors reveals PZ‑II‑029 binding and β-α-β-α-γ assemblies

Episode 288

February 12, 2026

288: Cryo-EM of rat cerebellar α1/α6 GABAA receptors reveals PZ‑II‑029 binding and β-α-β-α-γ assemblies

Sun C et al., PNAS - Using cryo-EM and mass spectrometry in rat cerebellum, α1- and α6-containing GABAA receptor assemblies (β‑α‑β‑α‑γ stoichiometry) and PZ-II-029...

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00:16:55

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