Best Gustavo Barra Podcasts (2025)

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110: Whole-exome sequencing identifies new schizophrenia risk genes 20:31

1d ago20:31

20:31

️ Episode 110: Whole-exome sequencing identifies new schizophrenia risk genes In this episode of PaperCast Base by Base, we explore a landmark whole-exome sequencing study that expands our understanding of the rare genetic variants contributing to schizophrenia risk. By combining newly sequenced samples with large-scale published datasets, research…

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109: Autocrine Interferon Poisoning: ADAR1–BRCA Synthetic Lethality 18:10

2d ago18:10

18:10

️ Episode 109: Autocrine Interferon Poisoning: ADAR1–BRCA Synthetic Lethality In this episode of PaperCast Base by Base, we explore how loss of the RNA editor ADAR1 becomes lethal to BRCA1/2‑mutant cancer cells through a tumor‑cell‑autonomous interferon response, outlining a biomarker‑guided path to ADAR1‑targeted therapy. Study Highlights: A focus…

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108: Epigenome Editing Reverses HBG Silencing 20:53

4d ago20:53

20:53

️ Episode 108: Epigenome Editing Reverses HBG Silencing In this episode of PaperCast Base by Base, we explore how targeted removal of CpG methylation at the HBG promoters causally reactivates fetal hemoglobin (HbF) without cutting DNA, revealing a precise path to treat β‑hemoglobinopathies. Study Highlights: A forward CRISPR screen in adult‑type er…

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107: Genome-wide Association Study Reveals Genetic Links to Pulpal and Apical Diseases 19:07

5d ago19:07

19:07

Episode 107: Genome-wide Association Study Reveals Genetic Links to Pulpal and Apical Diseases In this episode of PaperCast Base by Base, we explore a large-scale genome-wide association study investigating the genetic underpinnings of pulpal and apical diseases. Using Finnish health registry data from over 485,000 individuals in the FinnGen cohort…

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106: Decoding Brain Maps for Pharmacotranscriptomics 19:25

6d ago19:25

19:25

️ Episode 106: Decoding Brain Maps for Pharmacotranscriptomics In this episode of PaperCast Base by Base, we explore a Nature Communications study, that introduces a fast, surface-based framework to decode imaging-derived brain phenotypes by aligning high-resolution cortical gene-expression maps with PET targets and structural MRI patterns. The wor…

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105: Genome-level Selection as a Universal Marker of Cancer Therapy Resistance 18:28

7d ago18:28

18:28

️ Episode 105: Genome-level Selection as a Universal Marker of Cancer Therapy Resistance In this episode of PaperCast Base by Base, we explore groundbreaking research revealing how the evolutionary dynamics of tumor genomes can serve as a universal marker of resistance to cancer therapy. By analyzing whole-exome sequencing data from multiple cancer…

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104: Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation 16:56

7d ago16:56

16:56

Episode 104: Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation In this episode of PaperCast Base by Base, we explore a large cross-ancestry study that integrates genome-wide association results with plasma proteomics to map genetic architecture, nominate causal pathways and proteins, and boost…

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103: Genome Sequencing Forecasts Outcomes After Congenital Cardiac Surgery 17:56

9d ago17:56

17:56

️ Episode 103: Genome Sequencing Forecasts Outcomes After Congenital Cardiac Surgery In this episode of PaperCast Base by Base, we explore how large-scale exome sequencing combined with explainable AI can predict adverse outcomes after surgery for congenital heart defects. Using a prospective cohort from the Pediatric Cardiac Genomics Consortium, t…

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102: Clinical Impact of Pharmacogenetic Risk Variants in a Large Chinese Cohort 14:38

9d ago14:38

14:38

Episode 102: Clinical Impact of Pharmacogenetic Risk Variants in a Large Chinese Cohort In this episode of PaperCast Base by Base, we explore how large-scale pharmacogenomics translates to real-world care using data from the Taiwan Precision Medicine Initiative. We follow a Nature Communications study that analyzes gene–drug interactions across 486…

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101: JAK2 Inhibition Selects RAS-Mutant Clones in Myelofibrosis 18:25

10d ago18:25

18:25

️Episode 101: JAK2 Inhibition Selects RAS-Mutant Clones in Myelofibrosis In this episode of PaperCast Base by Base, we explore how JAK2 inhibition with ruxolitinib can reshape clonal architecture in myeloproliferative neoplasms (MPN), favoring outgrowth of RAS‑pathway mutant subclones and altering patient outcomes. We situate these findings within …

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️ 100: Epigenomic Diagnosis and Prognosis of Acute Myeloid Leukemia 14:44

11d ago14:44

14:44

️ Episode 100: Epigenomic Diagnosis and Prognosis of Acute Myeloid Leukemia In this episode of PaperCast Base by Base, we explore a groundbreaking study that maps the epigenomic landscape of Acute Myeloid Leukemia (AML) and develops powerful diagnostic and prognostic tools for clinical use. The research introduces the Acute Leukemia Methylome Atlas…

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️ 99: NXT2: A Testis-Specific RNA Export Factor Essential for Spermatogenesis 14:36

13d ago14:36

14:36

️ Episode 99: NXT2: A Testis-Specific RNA Export Factor Essential for Spermatogenesis In this episode of PaperCast Base by Base, we explore how the testis-enriched paralog NXT2 orchestrates nucleocytoplasmic mRNA export in human germ cells and its critical role in male infertility. Study Highlights: Proteomic analyses of human testicular tissue unc…

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️ 98: Cell Marker Accordion: Interpretable Single-Cell and Spatial Omics Annotation in Health and Disease 19:20

13d ago19:20

19:20

️ Episode 98: Cell Marker Accordion: Interpretable Single-Cell and Spatial Omics Annotation in Health and Disease In this episode of PaperCast Base by Base, we explore a user-friendly platform developed by Busarello et al. that integrates and standardizes over 23 human and murine gene-marker databases into a weighted resource for robust annotation …

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️ 97: Pancreatic Cancer Genomics: Insights from the COMPASS Trial 21:43

14d ago21:43

21:43

️ Episode 97: Pancreatic Cancer Genomics: Insights from the COMPASS Trial In this episode of PaperCast Base by Base, we explore how integrated whole genome and transcriptome sequencing uncovers clinically relevant subtypes and molecular features in advanced pancreatic ductal adenocarcinoma (PDAC). Study Highlights: The COMPASS trial profiled 268 ad…

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️ 96: Early Cerebrospinal Fluid Proteomic Changes in Down Syndrome and Alzheimer’s Disease 16:39

15d ago16:39

16:39

️ Episode 96: Early Cerebrospinal Fluid Proteomic Changes in Down Syndrome and Alzheimer’s Disease In this episode of PaperCast Base by Base, we explore a large-scale proteomic study comparing cerebrospinal fluid (CSF) profiles in individuals with Down Syndrome (DS), late-onset Alzheimer’s disease (LOAD), and autosomal dominant Alzheimer’s disease …

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️ 95: Mitochondria on the Move: Biotechnological Strategies for Transfer and Transplantation 19:10

16d ago19:10

19:10

️ Episode 95: Mitochondria on the Move: Biotechnological Strategies for Transfer and Transplantation In this episode of PaperCast Base by Base, we explore recent advances in biotechnological methods for mitochondria transfer and transplantation aimed at restoring cellular function in diseases driven by mitochondrial dysfunction. Study Highlights: T…

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️ 94: Intraindividual Epigenetic Heterogeneity in Advanced Prostate Cancer 20:29

17d ago20:29

20:29

️ Episode 94: Intraindividual Epigenetic Heterogeneity in Advanced Prostate Cancer In this episode of PaperCast Base by Base, we explore how integrated DNA methylation, RNA sequencing, and histone modification profiling across metastatic lesions reveal intraindividual epigenetic diversity underlying phenotypic subtypes of castration-resistant prost…

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️ 93: Neuroinvasive and Pulmonary Virulence of H5N1 Clade 2.3.4.4b Genotype B3.13 19:01

18d ago19:01

19:01

️ Episode 93: Neuroinvasive and Pulmonary Virulence of H5N1 Clade 2.3.4.4b Genotype B3.13 In this episode of PaperCast Base by Base, we explore how a bovine-derived H5N1 virus from clade 2.3.4.4b genotype B3.13 exhibits enhanced pulmonary and neurovirulent properties in mouse models, highlighting its potential implications for zoonotic transmission…

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️ 92: Genetic Loss of CFHR5 Function Protects Against Age-Related Macular Degeneration 16:49

19d ago16:49

16:49

️ Episode 92: Genetic Loss of CFHR5 Function Protects Against Age-Related Macular Degeneration In this episode of PaperCast Base by Base, we explore a genome‑wide association and fine‑mapping study in a Finnish cohort that identifies CFHR5 loss‑of‑function variants as independent protective factors against age‑related macular degeneration and inves…

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️ 91: Genome-wide Association of Plasma N-Glycome Reveals Links to Liver Disease and Anti-Inflammatory Proteins 17:42

20d ago17:42

17:42

️ Episode 91: Genome-wide Association of Plasma N-Glycome Reveals Links to Liver Disease and Anti-Inflammatory Proteins In this episode of PaperCast Base by Base, we explore a large-scale genome-wide association study that uncovers novel genetic regulators of plasma protein N-glycosylation and their connections to liver function and inflammatory pa…

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️ 90: Variable and Interactive Effects of Sex, APOE ε4 and TREM2 on Tau Deposition 15:57

21d ago15:57

15:57

️ Episode 90: Variable and Interactive Effects of Sex, APOE ε4 and TREM2 on Tau Deposition In this episode of PaperCast Base by Base, we explore how genetic factors—including sex differences, Apolipoprotein E ε4 allele dosage, and rare TREM2 risk variants—shape the accumulation and spread of tau pathology in Alzheimer’s disease using multimodal ima…

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️ 89: Decoding the Genetics of Smell: Sex-Specific Variants in Olfactory Identification 20:28

22d ago20:28

20:28

️ Episode 89: Decoding the Genetics of Smell: Sex-Specific Variants in Olfactory Identification In this episode of PaperCast Base by Base, we explore how a genome-wide association meta-analysis of olfactory identification across 21,495 individuals reveals novel genetic loci underlying human smell perception. Study Highlights: Using the Sniffin’ Sti…

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️ 88: Stable Heritability of Type 1 Diabetes Over Three Decades in Sweden 18:28

23d ago18:28

18:28

️ Episode 88: Stable Heritability of Type 1 Diabetes Over Three Decades in Sweden In this episode of PaperCast Base by Base, we explore a Swedish nationwide register-based study that assesses whether the heritability of childhood-onset type 1 diabetes has changed from 1982 to 2010 and how environmental factors have contributed to the rising inciden…

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️ 87: Circulating cfDNA Methylation Reveals Allograft Injury Sources after Liver Transplant 20:20

24d ago20:20

20:20

️ Episode 87: Circulating cfDNA Methylation Reveals Allograft Injury Sources after Liver Transplant In this episode of PaperCast Base by Base, we explore how sequence-based analysis of cell-free DNA methylation patterns can non-invasively monitor and differentiate cellular sources of allograft injury in liver transplant patients within the first po…

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️ 86: Variable Penetrance in Monogenic Traits — How Genetic Background Modulates Disease Severity 19:27

25d ago19:27

19:27

️ Episode 86: Variable Penetrance in Monogenic Traits — How Genetic Background Modulates Disease Severity In this episode of PaperCast Base by Base, we explore a landmark study that unravels why carriers of the same pathogenic variant often present with very different clinical outcomes, providing new insights into gene–disease association, variant …

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️ 85: Genomic landscape of virus-associated cancers 23:15

26d ago23:15

23:15

️ Episode 85: Genomic landscape of virus-associated cancers In this episode of PaperCast Base by Base, we explore the comparative genomic analysis of virus-positive and virus-negative tumors across nine cancer types linked to five oncogenic viruses uncovering epidemiological patterns, mutational signatures, and therapeutic implications. Study Highl…

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️ 84: Variants in NR6A1 cause a novel oculo-vertebral-renal syndrome 17:12

27d ago17:12

17:12

️ 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 rare variants in the orphan nuclear receptor gene NR6A1 as the genetic cause of a newly described autosomal dominant oculo-vertebral-renal (OVR) syndrome characterized by colobomatous microphthalmia, ve…

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️ 83: Single-cell Analysis of dup15q Syndrome Illuminates Autism Mechanisms 25:47

28d ago25:47

25:47

️ 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 sequencing of patient-derived cortical organoids and postmortem brain tissue uncovers developmental and postnatal molecular changes in duplication 15q syndrome, a major genetic cause of autism…

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️ 82: JAK2 Inhibition Drives RAS Pathway Mutant Clonal Selection in Myeloproliferative Neoplasms 19:07

29d ago19:07

19:07

️ Episode 82: JAK2 Inhibition Drives RAS Pathway Mutant Clonal Selection in Myeloproliferative Neoplasms In this episode of PaperCast Base by Base, we explore how JAK2 inhibition by ruxolitinib reshapes clonal dynamics in myelofibrosis by mediating the expansion of RAS pathway-mutated clones in myeloproliferative neoplasms. Study Highlights: We con…

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️ 81: Clinical Impact of Pharmacogenetic Risk Variants in a Large Chinese Cohort 21:10

1M ago21:10

21:10

️ Episode 81: Clinical Impact of Pharmacogenetic Risk Variants in a Large Chinese Cohort In this episode of PaperCast Base by Base, we explore a retrospective analysis of genetic and clinical data from the Taiwan Precision Medicine Initiative cohort to assess how actionable pharmacogenetic variants influence drug response and adverse events in near…

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️ 80: Genomic Forecasting of Postoperative Outcomes in Congenital Cardiac Surgery 16:15

1M ago16:15

16:15

️ Episode 80: Genomic Forecasting of Postoperative Outcomes in Congenital Cardiac Surgery In this episode of PaperCast Base by Base, we explore the use of artificial intelligence–driven genome sequencing to predict clinical outcomes following surgery for congenital heart defects. Study Highlights: The authors conducted a prospective observational c…

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️ 79: Cross-Population GWAS and Proteomic Insights in Atrial Fibrillation 17:17

1M ago17:17

17:17

️ 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 meta-analysis combined with proteomic profiling to enhance risk prediction and uncover molecular mechanisms underlying atrial fibrillation. Study Highlights: The authors conducted a m…

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️ 78: Interactions between TTYH2 and APOE Facilitate Endosomal Lipid Transfer 14:53

1M ago14:53

14:53

️ Episode 78: Interactions between TTYH2 and APOE Facilitate Endosomal Lipid Transfer In this episode of PaperCast Base by Base, we explore the discovery and characterization of the interaction between the membrane protein TTYH2 and apolipoprotein E (APOE), and how this partnership drives lipid transfer within endosomal compartments. Study Highligh…

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️ 77: Range Extender: Unlocking Long-Distance Enhancer Activity 16:31

1M ago16:31

16:31

️ Episode 77: Range Extender: Unlocking Long-Distance Enhancer Activity In this episode of PaperCast Base by Base, we explore the discovery and functional characterization of a novel cis-acting element, termed REX, that mediates megabase-scale enhancer–promoter interactions and enables remote gene activation during limb development. Study Highlight…

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️ 76: Whole-genome Ancestry of an Old Kingdom Egyptian 13:22

1M ago13:22

13:22

️ Episode 76: Whole-genome Ancestry of an Old Kingdom Egyptian In this episode of PaperCast Base by Base, we explore the first 2× coverage whole-genome sequence recovered from a high-status individual of the Old Kingdom excavated at the Nuwayrat necropolis and examine the evidence for multi-regional ancestry during early Dynastic Egypt. Study Highl…

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️ 75: Metabolic Shaping of Enzyme Structures Over 400 Million Years 14:56

1M ago14:56

14:56

️ Episode 75: Metabolic Shaping of Enzyme Structures Over 400 Million Years In this episode of PaperCast Base by Base, we explore a large-scale study published in Nature by Lemke et al. that leverages AlphaFold2-predicted and experimentally determined enzyme structures across 27 yeast species to reveal how metabolic properties have constrained and …

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️ 74: Benchmarking T Cell Receptor–Epitope Predictors with ePytope-TCR 20:10

1M ago20:10

20:10

️ Episode 74: Benchmarking T Cell Receptor–Epitope Predictors with ePytope-TCR In this episode of PaperCast Base by Base, we explore a unified computational framework that integrates and benchmarks 21 T cell receptor–epitope binding prediction models to evaluate their performance on viral epitope repertoires and deep mutational scans. Study Highlig…

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️ 73: Assessing Family History in Dementia Genetics: Enhancing Diagnostic Yield 15:55

1M ago15:55

15:55

️ Episode 73: Assessing Family History in Dementia Genetics: Enhancing Diagnostic Yield In this episode of PaperCast Base by Base, we explore a study that evaluates how stratifying dementia patients by family history and age at onset can optimize the identification of diagnostically significant genetic variants in a clinical memory clinic setting, …

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️ 72: The POC5 Syndrome — A Ciliopathy Linking Retina, Muscles and Metabolism 19:44

1M ago19:44

19:44

️ Episode 72: The POC5 Syndrome — A Ciliopathy Linking Retina, Muscles and Metabolism In this episode of Base by Base, we explore a multi-institutional study by Vulto-van Silfhout et al. (2025), published in Genetics in Medicine, that uncovers a novel syndromic ciliopathy caused by bi-allelic loss-of-function variants in the POC5 gene. The research…

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️ 71: ELFN1 Deficiency Disorder — Mechanistic Basis and Phenotypic Spectrum of a Neurodevelopmental Disorder with Epilepsy 25:16

1M ago25:16

25:16

️ Episode 71: ELFN1 Deficiency Disorder — Mechanistic Basis and Phenotypic Spectrum of a Neurodevelopmental Disorder with Epilepsy In this episode of Base by Base, we dive into the recent pre-proof study by Dore et al. (2025) in Genetics in Medicine, which defines a new autosomal recessive neurodevelopmental syndrome caused by biallelic variants in…

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️ 70: Scalable Screening of Ternary-Code DNA Methylation Dynamics Associated with Human Traits 19:10

1M ago19:10

19:10

️ Episode 70: Scalable Screening of Ternary-Code DNA Methylation Dynamics Associated with Human Traits In this episode of Base por Base, we delve into a methodological breakthrough reported by Goldberg et al. (2025) in Cell Genomics, where the authors introduce the methylation screening array (MSA) — a next-generation Infinium BeadChip designed for…

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️ 69: Synthetic Dosage Lethality of PLK1 — Targetable Vulnerabilities in PLK1-Overexpressing Cancers 16:15

1M ago16:15

16:15

️ Episode 69: Synthetic Dosage Lethality of PLK1 — Targetable Vulnerabilities in PLK1-Overexpressing Cancers In this episode of Base por Base, we delve into a comprehensive study by Cunningham et al. (2025) in Cell Genomics that harnesses genome-wide synthetic dosage lethality (SDL) screening to uncover novel therapeutic targets in cancers driven b…

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️ 68: Indels Empower Antiviral Proteins to Achieve Functional Novelty Beyond Missense Mutations 16:04

1M ago16:04

16:04

️ Episode 68: Indels Empower Antiviral Proteins to Achieve Functional Novelty Beyond Missense Mutations In this episode of Base by Base, we dive into pioneering work by Tenthorey et al. (2025) in Cell Genomics that uncovers how insertion and deletion mutations—indels—can unlock evolutionary innovations in the antiviral protein TRIM5α. By applying b…

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️ 67: Smarter Signals — How Multimodal AI Boosts Genetic Prediction of Heart Disease 14:47

1M ago14:47

14:47

️ Episode 67: Smarter Signals — How Multimodal AI Boosts Genetic Prediction of Heart Disease In this episode of Base por Base, we delve into a major advancement in the intersection of artificial intelligence and cardiovascular genomics. A study by Zhou et al. (2025), published in The American Journal of Human Genetics, introduces M-REGLE (Multimoda…

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️ 66: Mainstreaming Clinical Genetic Testing — A Conceptual Framework 20:02

2M ago20:02

20:02

️ 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…

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️ 65: Uncovering Hidden Splice Defects — Genome Sequencing and Group-Enrichment in Marfan Syndrome 18:37

2M ago18:37

18:37

️ 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…

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️ 64: Pisces — A Multi-Modal Framework for Predicting Drug Combination Synergy 23:10

2M ago23:10

23:10

️ 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 generati…

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️ 63: Sampling Scale Matters — A Spatial Model for Rare Variant Discovery in Biobank-Scale Datasets 23:10

2M ago23:10

23:10

️ 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 disc…

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️ 62: Breaking Resistance — How BRCA2-Deficient Tumors Escape PARP Inhibition Without Reversion Mutations 17:00

2M ago17:00

17:00

️ 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 …

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️ 61: Monkeypox on the Frontline — Developing Brazil’s First qPCR Diagnostic Assay 22:43

2M ago22:43

22:43

️ 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 …

Podcasts Worth a Listen

Gustavo Barra Podcasts

Podcasts Worth a Listen

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