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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

153: Skeletal muscle eQTLs map cardiometabolic genes

Episode 153

September 30, 2025

153: Skeletal muscle eQTLs map cardiometabolic genes

Wilson EPW et al., The American Journal of Human Genetics - This episode covers a skeletal muscle eQTL meta-analysis of 1,002 individuals that discovered...

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00:15:13

152: Hereditary Alpha Tryptasemia: Single‑Well ddPCR Validation

Episode 152

September 29, 2025

152: Hereditary Alpha Tryptasemia: Single‑Well ddPCR Validation

Alheraky A et al., Clinical Chemistry - This episode reviews a validation study of a single-well multiplex ddPCR assay that quantifies TPSAB1 α- and...

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00:16:53

151: EQA of ctDNA Molecular Tumor Profiling in the COIN Consortium

Episode 151

September 28, 2025

151: EQA of ctDNA Molecular Tumor Profiling in the COIN Consortium

van der Leest P et al., Clinical Chemistry - An interlaboratory external quality assessment across 16 laboratories in the Dutch COIN consortium evaluated how...

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00:16:21

150: Patrilineal segmentary systems provide a peaceful explanation for the post‑Neolithic Y‑chromosome bottleneck

Episode 150

September 27, 2025

150: Patrilineal segmentary systems provide a peaceful explanation for the post‑Neolithic Y‑chromosome bottleneck

Guyon L et al., Nature Communications - Forward-time simulations and coalescent inference show that variance in reproductive success among patrilineal descent groups combined with...

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00:17:52

149: Tracing ancient Y chromosome variation

Episode 149

September 26, 2025

149: Tracing ancient Y chromosome variation

Kivisild T et al., Hum Genet (2017) 136:529–546 - Review of how high-throughput sequencing of ancient human remains has enabled genome-scale study of male-specific...

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00:15:04

148: CHEK2 splice-site variants: minigene dissection

Episode 148

September 25, 2025

148: CHEK2 splice-site variants: minigene dissection

Sanoguera-Miralles L et al., Clinical Chemistry - This episode examines a minigene-based functional study of 52 CHEK2 splice-site variants from the BRIDGES project, reporting...

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00:14:44