x

75% of people globally want unbiased news (Pew Research) but are concerned they're not getting that.

Get balanced coverage with Symby. See how stories are covered across diverse outlets and spot when one side covers a story the other skips.

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

00:20:02

️ 66: Mainstreaming Clinical Genetic Testing — A...

Base by Base ·

2025/07/05

️ Episode 66: Mainstreaming Clinical Genetic Testing — A Conceptual Framework In this episode of Base por Base, we delve into the consensus-based framework introduced by Mackley et al. (2025) in Genetics in Medicine, which proposes a structured approach to integrate genetic testing into non-geneticist clinical practice to meet growing demand amid a stable genetics workforce . Study Highlights:The authors convened a focus group of thirty-five experts

en-us

00:20:01

🎙️ 66: Mainstreaming Clinical Genetic Testing — A...

Base by Base ·

2025/07/05

🎙️ Episode 66: Mainstreaming Clinical Genetic Testing — A Conceptual Framework🧬 In this episode of Base por Base, we delve into the consensus-based framework introduced by Mackley et al. (2025) in Genetics in Medicine, which proposes a structured approach to integrate genetic testing into non-geneticist clinical practice to meet growing demand amid a stable genetics workforce .🔍 Study Highlights:The authors convened a focus group of thirty-five experts representing twenty clinical genetics

en-us

00:18:36

🎙️ 65: Uncovering Hidden Splice Defects — Genome...

Base by Base ·

2025/07/04

🎙️ Episode 65: Uncovering Hidden Splice Defects — Genome Sequencing and Group-Enrichment in Marfan Syndrome🧬 In this episode of Base por Base, we delve into a groundbreaking study by Walker et al. (2025) in Genetics in Medicine that leverages whole-genome sequencing from the 100,000 Genomes Project alongside advanced in silico prediction and targeted RNA assays to reveal the contribution of non-canonical FBN1 splice variants to undiagnosed Marfan syndrome.🔍 Key Highlights of the Study:The authors

en-us

00:18:37

️ 65: Uncovering Hidden Splice Defects — Genome...

Base by Base ·

2025/07/04

️ Episode 65: Uncovering Hidden Splice Defects — Genome Sequencing and Group-Enrichment in Marfan Syndrome In this episode of Base por Base, we delve into a groundbreaking study by Walker et al. (2025) in Genetics in Medicine that leverages whole-genome sequencing from the 100,000 Genomes Project alongside advanced in silico prediction and targeted RNA assays to reveal the contribution of non-canonical FBN1 splice variants to undiagnosed Marfan syndrome

en-us

00:23:10

️ 64: Pisces — A Multi-Modal Framework for Predicting...

Base by Base ·

2025/07/03

️ Episode 64: Pisces — A Multi-Modal Framework for Predicting Drug Combination Synergy In this episode of Base by Base, we delve into a groundbreaking methodological advance published by Xu et al. (2025) in Cell Genomics, which introduces Pisces, a novel machine-learning framework that overcomes data sparsity in drug combination studies by generating multiple modality-specific views for each drug pair. By projecting eight complementary data

en-us

00:23:09

🎙️ 64: Pisces — A Multi-Modal Framework for...

Base by Base ·

2025/07/03

🎙️ Episode 64: Pisces — A Multi-Modal Framework for Predicting Drug Combination Synergy🧬 In this episode of Base by Base, we delve into a groundbreaking methodological advance published by Xu et al. (2025) in Cell Genomics, which introduces Pisces, a novel machine-learning framework that overcomes data sparsity in drug combination studies by generating multiple modality-specific views for each drug pair. By projecting eight complementary data modalities—ranging from molecular structures and SMILES

en-us

00:23:09

🎙️ 63: Sampling Scale Matters — A Spatial Model for...

Base by Base ·

2025/07/02

🎙️ Episode 63: Sampling Scale Matters — A Spatial Model for Rare Variant Discovery in Biobank-Scale Datasets🧬 In this episode of Base by Base, we delve into a methodological advance by Steiner et al. (2025) published in PNAS that introduces a spatial branching process framework to investigate how the geographic breadth of sampling influences the discovery and allele frequency spectrum of rare, deleterious genetic variants in large sequencing cohorts.🔍 Study highlights: The authors show

en-us

00:23:10

️ 63: Sampling Scale Matters — A Spatial Model for...

Base by Base ·

2025/07/02

️ Episode 63: Sampling Scale Matters — A Spatial Model for Rare Variant Discovery in Biobank-Scale Datasets In this episode of Base by Base, we delve into a methodological advance by Steiner et al. (2025) published in PNAS that introduces a spatial branching process framework to investigate how the geographic breadth of sampling influences the discovery and allele frequency spectrum of rare, deleterious genetic variants in large sequencing cohorts. Study

en-us

00:16:59

🎙️ 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 organoids, the researchers uncovered a

en-us

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

en-us

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

en-us

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

en-us

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

en-us

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

en-us

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

en-us

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

en-us

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

452 results

Similar Podcasts

Classic Radio Science Fiction

solgoodmedia.com

Mission to Mars

Inception Point Ai

The 365 Days of Astronomy

365DaysOfAstronomy.org

Creek Devil

william Jevning

UFO Chronicles Podcast

Nik Hunter