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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

159: Short Reads, Big Biodiversity: The Untapped Potential of Genome Skimming

Episode 159

October 06, 2025

159: Short Reads, Big Biodiversity: The Untapped Potential of Genome Skimming

Bleidorn C et al., Trends in Genetics - This episode examines a Trends in Genetics review arguing that short-read shotgun sequencing and genome skimming...

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00:15:56

158: Interruptions in repeat expansion diseases and the SD-MMEJ hypothesis

Episode 158

October 05, 2025

158: Interruptions in repeat expansion diseases and the SD-MMEJ hypothesis

Aston AN et al., Trends in Genetics - This opinion article reviews how short sequence interruptions within expanded tandem repeats alter somatic instability and...

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00:22:35

157: Synthetic Gametes and the Non-Identity Problem

Episode 157

October 04, 2025

157: Synthetic Gametes and the Non-Identity Problem

Villalba A et al., Trends in Genetics - A concise exploration of how synthetic DNA could enable engineered haploid gametes, why that possibility intensifies...

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00:14:32

156: ZFKLO[N, ZUF and TKZLO[N Systems

Episode 156

October 03, 2025

156: ZFKLO[N, ZUF and TKZLO[N Systems

Cheng Y et al., Cell - This episode summarizes a technical report focused on ZFKLO[N and its relationships with ZUF and TKZLO[N systems as...

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00:17:07

155: eIF3A/EIF3B haploinsufficiency and a syndromic cause of CHD

Episode 155

October 02, 2025

155: eIF3A/EIF3B haploinsufficiency and a syndromic cause of CHD

Erkut E et al., The American Journal of Human Genetics - This episode examines an international cohort of 18 individuals with de novo or...

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00:15:53

154: Multiple-testing corrections in IBD-based selection scans

Episode 154

October 01, 2025

154: Multiple-testing corrections in IBD-based selection scans

Temple SD et al., The American Journal of Human Genetics - Temple and Browning model correlations of identity-by-descent (IBD) rates to derive analytical and...

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00:20:05