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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

156: RAEFISH: Sequencing-free whole-genome spatial transcriptomics at single-molecule resolution

Episode 156

October 03, 2025

156: RAEFISH: Sequencing-free whole-genome spatial transcriptomics at single-molecule resolution

️ Episode 156: RAEFISH: Sequencing-free whole-genome spatial transcriptomics at single-molecule resolution In this episode of PaperCast Base by Base, we explore RAEFISH, a reverse-padlock...

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00:17:07

155: EIF3A/EIF3B Loss-of-Function: A Cardiocraniofacial Neurodevelopmental Syndrome

Episode 155

October 02, 2025

155: EIF3A/EIF3B Loss-of-Function: A Cardiocraniofacial Neurodevelopmental Syndrome

️ Episode 155: EIF3A/EIF3B Loss-of-Function: A Cardiocraniofacial Neurodevelopmental Syndrome In this episode of PaperCast Base by Base, we explore how loss-of-function variants in EIF3A...

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00:15:53

154: Multiple-testing corrections in selection scans using identity-by-descent segments

Episode 154

October 01, 2025

154: Multiple-testing corrections in selection scans using identity-by-descent segments

️ Episode 154: Multiple-testing corrections in selection scans using identity-by-descent segments In this episode of PaperCast Base by Base, we explore how Temple and...

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00:20:05

153: Skeletal muscle eQTL meta-analysis implicates genes in the genetic architecture of muscular and cardiometabolic traits

Episode 153

September 30, 2025

153: Skeletal muscle eQTL meta-analysis implicates genes in the genetic architecture of muscular and cardiometabolic traits

️ Episode 153: Skeletal muscle eQTL meta-analysis implicates genes in the genetic architecture of muscular and cardiometabolic traits In this episode of PaperCast Base...

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00:15:13

152: One-Well Multiplex ddPCR for Hereditary Alpha Tryptasemia

Episode 152

September 29, 2025

152: One-Well Multiplex ddPCR for Hereditary Alpha Tryptasemia

️ Episode 152: One-Well Multiplex ddPCR for Hereditary Alpha Tryptasemia In this episode of PaperCast Base by Base, we explore a validated single‑well multiplex...

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00:16:53

151: EQA of ctDNA Mutation Testing Across the COIN Consortium

Episode 151

September 28, 2025

151: EQA of ctDNA Mutation Testing Across the COIN Consortium

️ Episode 151: EQA of ctDNA Mutation Testing Across the COIN Consortium In this episode of PaperCast Base by Base, we explore how 16...

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00:16:21

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