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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

146: Automated and Decentralized Genomic Profiling of Plasma Cell-Free DNA in Solid Tumors

Episode 146

September 23, 2025

146: Automated and Decentralized Genomic Profiling of Plasma Cell-Free DNA in Solid Tumors

️ Episode 146: Automated and Decentralized Genomic Profiling of Plasma Cell-Free DNA in Solid Tumors In this episode of PaperCast Base by Base, we...

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00:15:56

145: A Validated Highly Sensitive Microsatellite Instability Assay Identifies PMS2 Variants in CMMRD

Episode 145

September 22, 2025

145: A Validated Highly Sensitive Microsatellite Instability Assay Identifies PMS2 Variants in CMMRD

️ Episode 145: A Validated Highly Sensitive Microsatellite Instability Assay Identifies PMS2 Variants in CMMRD In this episode of PaperCast Base by Base, we...

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00:16:59

144: Revised time estimation of the ancestral human chromosome 2 fusion

Episode 144

September 21, 2025

144: Revised time estimation of the ancestral human chromosome 2 fusion

️ Episode 144: Revised time estimation of the ancestral human chromosome 2 fusion In this episode of PaperCast Base by Base, we explore a...

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00:17:10

143: The genetic history of the Southern Caucasus: 5,000 years of continuity despite high mobility

Episode 143

September 20, 2025

143: The genetic history of the Southern Caucasus: 5,000 years of continuity despite high mobility

️ Episode 143: The genetic history of the Southern Caucasus: 5,000 years of continuity despite high mobility In this episode of PaperCast Base by...

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00:18:56

142: Specifications of the ACMG/AMP Guidelines for PALB2 Variant Interpretation

Episode 142

September 19, 2025

142: Specifications of the ACMG/AMP Guidelines for PALB2 Variant Interpretation

️ Episode 142: Specifications of the ACMG/AMP Guidelines for PALB2 Variant Interpretation In this episode of PaperCast Base by Base, we explore how the...

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00:16:35

141: RetiGene, a comprehensive gene atlas for inherited retinal diseases

Episode 141

September 18, 2025

141: RetiGene, a comprehensive gene atlas for inherited retinal diseases

️ Episode 141: RetiGene, a comprehensive gene atlas for inherited retinal diseases In this episode of PaperCast Base by Base, we explore RetiGene, an...

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00:26:12