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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

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Episode 159

October 06, 2025

159: The Untapped Potential of Short‑Read Sequencing in Biodiversity Research

️ Episode 159: The Untapped Potential of Short‑Read Sequencing in Biodiversity Research In this episode of PaperCast Base by Base, we explore how modern...

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00:15:56

158: Interruptions in Repeat Expansion Diseases: How Are They Gained and Lost?

Episode 158

October 05, 2025

158: Interruptions in Repeat Expansion Diseases: How Are They Gained and Lost?

️ Episode 158: Interruptions in Repeat Expansion Diseases: How Are They Gained and Lost? In this episode of PaperCast Base by Base, we explore...

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00:22:35

157: Synthetic gametes and the non-identity problem: the babies of tomorrow

Episode 157

October 04, 2025

157: Synthetic gametes and the non-identity problem: the babies of tomorrow

️ Episode 157: Synthetic gametes and the non-identity problem: the babies of tomorrow In this episode of PaperCast Base by Base, we explore how...

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00:14:32

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