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PODCAST

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 relevance—one base at a time. Powered by AI, Base by Base offers a new way to learn on the go. Special thanks to authors who publish under CC BY 4.0, making open-access science faster to share and easier to explore.

science life sciences

All Episodes

00:17:00

️ 62: Breaking Resistance — How BRCA2-Deficient...

Base by Base ·

2025/07/01

️ Episode 62: Breaking Resistance — How BRCA2-Deficient Tumors Escape PARP Inhibition Without Reversion Mutations In this episode of Base by Base, we explore a study by Pappas et al. (2025), published in PNAS, that sheds light on a major challenge in precision oncology: why some BRCA2-mutant prostate cancers fail to respond to PARP inhibitors even in the absence of reversion mutations. Using genome-wide CRISPR screens in BRCA2-deficient murine prostate

en-us

00:22:42

🎙️ 61: Monkeypox on the Frontline — Developing...

Base by Base ·

2025/06/30

🎙️ Episode 61: Monkeypox on the Frontline — Developing Brazil’s First qPCR Diagnostic Assay🧬 In this episode of Base by Base, we trace the rapid development and rigorous validation of the first laboratory-developed qPCR test for monkeypox virus in Brazil’s Federal District. Back in July 2022, researchers at Sabin Diagnóstico e Saúde and the Catholic University of Brasília joined forces to design, optimize, and deploy a sensitive molecular assay that went from concept to clinical use in just 45

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00:22:43

️ 61: Monkeypox on the Frontline — Developing...

Base by Base ·

2025/06/30

️ Episode 61: Monkeypox on the Frontline — Developing Brazil’s First qPCR Diagnostic Assay In this episode of Base by Base, we trace the rapid development and rigorous validation of the first laboratory-developed qPCR test for monkeypox virus in Brazil’s Federal District. Back in July 2022, researchers at Sabin Diagnóstico e Saúde and the Catholic University of Brasília joined forces to design, optimize, and deploy a sensitive molecular assay that went

en-us

00:17:41

️ 60: Epi-PRS — A New Frontier in Polygenic Risk...

Base by Base ·

2025/06/30

️ Episode 60: Epi-PRS — A New Frontier in Polygenic Risk Prediction with Epigenomic Features In this episode of Base by Base, we explore a breakthrough in genetic risk modeling presented by Zeng et al. (2025) in PNAS. The study introduces Epi-PRS, an innovative framework that enhances polygenic risk prediction from whole-genome sequencing (WGS) data by leveraging predicted epigenomic features. By using large language models trained on extensive reference

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00:17:40

🎙️ 60: Epi-PRS — A New Frontier in Polygenic Risk...

Base by Base ·

2025/06/30

🎙️ Episode 60: Epi-PRS — A New Frontier in Polygenic Risk Prediction with Epigenomic Features🧬 In this episode of Base by Base, we explore a breakthrough in genetic risk modeling presented by Zeng et al. (2025) in PNAS. The study introduces Epi-PRS, an innovative framework that enhances polygenic risk prediction from whole-genome sequencing (WGS) data by leveraging predicted epigenomic features. By using large language models trained on extensive reference epigenomic datasets, Epi-PRS transforms

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00:22:54

🎙️ 59: Building Trust — Redefining Participant and...

Base by Base ·

2025/06/29

🎙️ Episode 59: Building Trust — Redefining Participant and Community Engagement in Cancer Genomics🧬 In this episode of Base by Base, we dive into a landmark article by Crossnohere et al. (2025), soon to appear in Genetics in Medicine, which examines strategies used across the PE-CGS Network to foster meaningful participant and community engagement in cancer genomic sequencing studies. This collaborative effort provides a framework for optimizing engagement processes, particularly in underserved

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00:22:55

️ 59: Building Trust — Redefining Participant and...

Base by Base ·

2025/06/29

️ Episode 59: Building Trust — Redefining Participant and Community Engagement in Cancer Genomics In this episode of Base by Base, we dive into a landmark article by Crossnohere et al. (2025), soon to appear in Genetics in Medicine, which examines strategies used across the PE-CGS Network to foster meaningful participant and community engagement in cancer genomic sequencing studies. This collaborative effort provides a framework for optimizing engagement

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00:22:04

️ 58: Aneuploid Cells and Cellular Battles — How Cell...

Base by Base ·

2025/06/28

️ Episode 58: Aneuploid Cells and Cellular Battles — How Cell Interactions Shape Genome Integrity In this episode of Base by Base, we explore a groundbreaking study by Fusari et al. (2025), published in Cell Genomics, that reveals how the fate of aneuploid cells is influenced not only by their own genetic imbalances but also by their neighbors. Using Drosophila models, the authors dissect the role of cell-to-cell interactions in eliminating cells with

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00:22:03

🎙️ 58: Aneuploid Cells and Cellular Battles — How...

Base by Base ·

2025/06/28

🎙️ Episode 58: Aneuploid Cells and Cellular Battles — How Cell Interactions Shape Genome Integrity🧬 In this episode of Base by Base, we explore a groundbreaking study by Fusari et al. (2025), published in Cell Genomics, that reveals how the fate of aneuploid cells is influenced not only by their own genetic imbalances but also by their neighbors. Using Drosophila models, the authors dissect the role of cell-to-cell interactions in eliminating cells with chromosomal losses or gains, uncovering a

en-us

00:19:39

🎙️ 57: Low Uptake of Genetic Testing in...

Base by Base ·

2025/06/27

🎙️ Episode 57: Low Uptake of Genetic Testing in Medicaid-Enrolled Children with ASD and Intellectual Disability🧬 In this episode of Base by Base, we delve into a comprehensive analysis by Brown et al. (2025) published in Genetics in Medicine, which examined Medicaid and CHIP claims from 2008 to 2016 for over 241,000 children aged 7 to 17. The study aimed to assess how well professional guidelines recommending genetic testing for autism spectrum disorder (ASD) and intellectual disability (ID) have

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00:19:40

️ 57: Low Uptake of Genetic Testing in...

Base by Base ·

2025/06/27

️ Episode 57: Low Uptake of Genetic Testing in Medicaid-Enrolled Children with ASD and Intellectual Disability In this episode of Base by Base, we delve into a comprehensive analysis by Brown et al. (2025) published in Genetics in Medicine, which examined Medicaid and CHIP claims from 2008 to 2016 for over 241,000 children aged 7 to 17. The study aimed to assess how well professional guidelines recommending genetic testing for autism spectrum disorder

en-us

00:16:01

️ 56: Neuronal Immunoproteasome — A Metabolic Trigger...

Base by Base ·

2025/06/26

️ Episode 56: Neuronal Immunoproteasome — A Metabolic Trigger for Ferroptotic Neurodegeneration in Multiple Sclerosis In this episode of Base by Base, we examine the transformative findings of Woo et al. (2025) in Cell, revealing how inflammation reshapes neuronal proteostasis. Under interferon-γ–driven stress, neurons incorporate the immunoproteasome subunit PSMB8 into their core proteasome, profoundly impairing catalytic function. This shift undermines

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00:15:59

🎙️ 56: Neuronal Immunoproteasome — A Metabolic...

Base by Base ·

2025/06/26

🎙️ Episode 56: Neuronal Immunoproteasome — A Metabolic Trigger for Ferroptotic Neurodegeneration in Multiple Sclerosis🧬 In this episode of Base by Base, we examine the transformative findings of Woo et al. (2025) in Cell, revealing how inflammation reshapes neuronal proteostasis. Under interferon-γ–driven stress, neurons incorporate the immunoproteasome subunit PSMB8 into their core proteasome, profoundly impairing catalytic function. This shift undermines the degradation of the glycolytic

en-us

00:14:33

🎙️ 55: Denisovan DNA in Dental Calculus — Linking...

Base by Base ·

2025/06/25

🎙️ Episode 55: Denisovan DNA in Dental Calculus — Linking Morphology and Genetics in a 146,000-Year-Old Hominin🦴 In this episode of Base by Base, we delve into a groundbreaking study by Fu et al. (2025) published in Cell, which reports the first successful retrieval of hominin mitochondrial DNA from dental calculus on the Harbin cranium, dated to over 146,000 years ago. Through targeted enrichment and high-throughput sequencing, the team recovered endogenous mtDNA fragments despite extensive

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00:14:34

️ 55: Denisovan DNA in Dental Calculus — Linking...

Base by Base ·

2025/06/25

️ Episode 55: Denisovan DNA in Dental Calculus — Linking Morphology and Genetics in a 146,000-Year-Old Hominin In this episode of Base by Base, we delve into a groundbreaking study by Fu et al. (2025) published in Cell, which reports the first successful retrieval of hominin mitochondrial DNA from dental calculus on the Harbin cranium, dated to over 146,000 years ago. Through targeted enrichment and high-throughput sequencing, the team recovered

en-us

00:18:50

️ 54: Temporal Immune Landscapes — A Multi-Omic Lens...

Base by Base ·

2025/06/24

️ Episode 54: Temporal Immune Landscapes — A Multi-Omic Lens on COVID-19 in End-Stage Kidney Disease In this new Base by Base episode we unpack a 2025 Cell Genomics study by Stephenson et al. that followed 61 haemodialysis patients through two waves of the pandemic. Using single-cell multi-omics (CITE-seq, VDJ-seq) across 580 000 immune cells, the team captured how SARS-CoV-2 reshapes the blood compartment over time, why some patients spiral into critical

en-us

00:18:49

🎙️ 54: Temporal Immune Landscapes — A Multi-Omic Lens...

Base by Base ·

2025/06/24

🎙️ Episode 54: Temporal Immune Landscapes — A Multi-Omic Lens on COVID-19 in End-Stage Kidney Disease🧬 In this new Base by Base episode we unpack a 2025 Cell Genomics study by Stephenson et al. that followed 61 haemodialysis patients through two waves of the pandemic. Using single-cell multi-omics (CITE-seq, VDJ-seq) across 580 000 immune cells, the team captured how SARS-CoV-2 reshapes the blood compartment over time, why some patients spiral into critical illness, and how routine dexamethasone

en-us

00:17:12

🎙️ 53: Weighing the Evidence — A Systematic Review of...

Base by Base ·

2025/06/23

🎙️ Episode 53: Weighing the Evidence — A Systematic Review of Polygenic Risk Score Economic Evaluations🧬 In this episode of Base by Base, we explore the systematic review by Siena et al. (2025) in The American Journal of Human Genetics, which examines the methods used to quantify the costs and benefits of polygenic risk–based strategies in clinical practice. The authors conducted a comprehensive search of PubMed, Web of Science, and Scopus, identifying 24 full economic evaluations—predominantly

en-us

00:17:13

️ 53: Weighing the Evidence — A Systematic Review of...

Base by Base ·

2025/06/23

️ Episode 53: Weighing the Evidence — A Systematic Review of Polygenic Risk Score Economic Evaluations In this episode of Base by Base, we explore the systematic review by Siena et al. (2025) in The American Journal of Human Genetics, which examines the methods used to quantify the costs and benefits of polygenic risk–based strategies in clinical practice. The authors conducted a comprehensive search of PubMed, Web of Science, and Scopus, identifying 24

en-us

00:16:42

🎙️ 52: Human Genetic Variation Reveals FCRL3 as a...

Base by Base ·

2025/06/22

🎙️ Episode 52: Human Genetic Variation Reveals FCRL3 as a Lymphocyte Receptor for Yersinia pestis🧬 In this episode of Base by Base, we dive into a cellular genome-wide association study (GWAS) of nearly 1,000 lymphoblastoid cell lines published by Keener et al. (2025) in Cell Genomics, which uncovers Fc receptor-like 3 (FCRL3) as a previously unrecognized surface receptor that mediates attachment and invasion of Yersinia pestis into human B cells. Employing the Hi-HOST platform, the authors

en-us

463 results

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