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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

️ 84: Variants in NR6A1 cause a novel oculo-vertebral-renal syndrome

Episode 84

July 23, 2025

️ 84: Variants in NR6A1 cause a novel oculo-vertebral-renal syndrome

️ Episode 84: Variants in NR6A1 cause a novel oculo-vertebral-renal syndrome In this episode of PaperCast Base by Base, we explore the discovery of...

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00:17:12

️ 83: Single-cell Analysis of dup15q Syndrome Illuminates Autism Mechanisms

Episode 83

July 22, 2025

️ 83: Single-cell Analysis of dup15q Syndrome Illuminates Autism Mechanisms

️ Episode 83: Single-cell Analysis of dup15q Syndrome Illuminates Autism Mechanisms In this episode of PaperCast Base by Base, we explore how single-cell RNA...

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00:25:47

️ 82: JAK2 Inhibition Drives RAS Pathway Mutant Clonal Selection in Myeloproliferative Neoplasms

Episode 82

July 21, 2025

️ 82: JAK2 Inhibition Drives RAS Pathway Mutant Clonal Selection in Myeloproliferative Neoplasms

️ Episode 82: JAK2 Inhibition Drives RAS Pathway Mutant Clonal Selection in Myeloproliferative Neoplasms In this episode of PaperCast Base by Base, we explore...

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00:19:07

️ 81: Clinical Impact of Pharmacogenetic Risk Variants in a Large Chinese Cohort

Episode 81

July 20, 2025

️ 81: Clinical Impact of Pharmacogenetic Risk Variants in a Large Chinese Cohort

️ Episode 81: Clinical Impact of Pharmacogenetic Risk Variants in a Large Chinese Cohort In this episode of PaperCast Base by Base, we explore...

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00:21:10

️ 80: Genomic Forecasting of Postoperative Outcomes in Congenital Cardiac Surgery

Episode 80

July 19, 2025

️ 80: Genomic Forecasting of Postoperative Outcomes in Congenital Cardiac Surgery

️ Episode 80: Genomic Forecasting of Postoperative Outcomes in Congenital Cardiac Surgery In this episode of PaperCast Base by Base, we explore the use...

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00:16:15

️ 79: Cross-Population GWAS and Proteomic Insights in Atrial Fibrillation

Episode 79

July 18, 2025

️ 79: Cross-Population GWAS and Proteomic Insights in Atrial Fibrillation

️ Episode 79: Cross-Population GWAS and Proteomic Insights in Atrial Fibrillation In this episode of PaperCast Base by Base, we explore a cross-population genome-wide...

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00:17:17