Stories where genes and genomes are key to solving energy and environmental challenges. Hear diverse voices in science talk about their JGI-supported research to better understand — and harness — the superpowers encoded in plants, fungi, microalgae, environmental viruses, and bacteria to contribute to a more sustainable world.
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Transcriptomics Podcasts
Neuro-Oncology: The Podcast will keep you up to date about the latest advances in the field as we present conversations with the authors of selected papers from Neuro-Oncology and its sister journals, Neuro-Oncology Practice and Neuro-Oncology Advances.
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Broadcasting the latest developments in GU cancer Hosted by Brian Rini and Tom Powles Brian Rini MD is a Professor of Cancer Research and Professor of Medicine (Hematology/Oncology), Vanderbilt-Ingram Cancer Center Tom Powles is the Director of Barts Cancer Centre, St Bartholomew's Hospital and Professor of Genitourinary Oncology, Queen Mary University of London
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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.
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A podcast discussing current research in the field of Genomics
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Podcast by BMJ Group
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Editors at eBioMedicine, in conversation with the journal’s authors, explore their latest research and its impact on people’s health, healthcare, and health policy. A monthly audio companion to this open access journal, this podcast covers a broad range of topics, from climate change and health to microplastics in human tissues, the microbiome-gut-brain axis and binge drinking to computational pathology in 2030, and more.
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156: RAEFISH: Sequencing-free whole-genome spatial transcriptomics at single-molecule resolution
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17:07️ Episode 156: RAEFISH: Sequencing-free whole-genome spatial transcriptomics at single-molecule resolution In this episode of PaperCast Base by Base, we explore RAEFISH, a reverse-padlock amplicon-encoding FISH method that delivers whole-transcriptome imaging at single-molecule resolution without sequencing. The study demonstrates genome-scale cove…
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Episode 439: Transcriptome Expression and Treatment Sensitivity in Prostate Cancer
41:24
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41:24Gert Attard joins the show to discuss his recent Cell publication looking at tumor transcriptome-wide expression classifiers in advanced prostate cancer.
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159: The Untapped Potential of Short‑Read Sequencing in Biodiversity Research
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15:56
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15:56️ Episode 159: The Untapped Potential of Short‑Read Sequencing in Biodiversity Research In this episode of PaperCast Base by Base, we explore how modern short‑read sequencing and genome skimming are reshaping biodiversity science—from rapid species identification and biomass estimation to scalable phylogenomics and holobiont studies—while keeping c…
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158: Interruptions in Repeat Expansion Diseases: How Are They Gained and Lost?
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22:35️ Episode 158: Interruptions in Repeat Expansion Diseases: How Are They Gained and Lost? In this episode of PaperCast Base by Base, we explore how small sequence changes—“interruptions”—within expanded tandem repeats shape the onset and severity of repeat expansion disorders, and a new mechanistic model that may explain how these interruptions are …
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157: Synthetic gametes and the non-identity problem: the babies of tomorrow
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14:32️ Episode 157: Synthetic gametes and the non-identity problem: the babies of tomorrow In this episode of PaperCast Base by Base, we explore how synthetic DNA technologies may enable the creation of synthetic gametes and why this possibility forces a rethinking of identity, harm, and responsibility in human reproduction. Study Highlights: The author…
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Episode 443: ESMO 2025 Bladder Cancer Preview
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32:09
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32:09Tom and Brian preview the practice-changing bladder cancer data to be presented at ESMO 2025 in Berlin
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155: EIF3A/EIF3B Loss-of-Function: A Cardiocraniofacial Neurodevelopmental Syndrome
15:53
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15:53️ Episode 155: EIF3A/EIF3B Loss-of-Function: A Cardiocraniofacial Neurodevelopmental Syndrome In this episode of PaperCast Base by Base, we explore how loss-of-function variants in EIF3A and EIF3B—core components of the eIF3 translation initiation complex—cause a multisystem disorder marked by congenital heart defects, craniofacial differences, and…
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154: Multiple-testing corrections in selection scans using identity-by-descent segments
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20:05️ Episode 154: Multiple-testing corrections in selection scans using identity-by-descent segments In this episode of PaperCast Base by Base, we explore how Temple and Browning develop principled genome-wide significance thresholds for IBD-based scans of recent positive selection by explicitly modeling correlation along the genome. Study Highlights:…
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153: Skeletal muscle eQTL meta-analysis implicates genes in the genetic architecture of muscular and cardiometabolic traits
15:13
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15:13️ Episode 153: Skeletal muscle eQTL meta-analysis implicates genes in the genetic architecture of muscular and cardiometabolic traits In this episode of PaperCast Base by Base, we explore a large skeletal muscle eQTL meta-analysis that integrates GTEx and FUSION data to pinpoint regulatory variants and genes underlying muscular and cardiometabolic …
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Episode 441: The History of IO in Urothelial Cancer - Part 2
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33:16Jonathan Rosenberg returns to finish this two-part series on IO drug development in urothelial cancer
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152: One-Well Multiplex ddPCR for Hereditary Alpha Tryptasemia
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16:53️ Episode 152: One-Well Multiplex ddPCR for Hereditary Alpha Tryptasemia In this episode of PaperCast Base by Base, we explore a validated single‑well multiplex digital droplet PCR (ddPCR) assay that reconstructs the TPSAB1 locus by quantifying α‑ and β‑tryptase copy numbers to diagnose hereditary alpha tryptasemia (HαT) in symptomatic patients. St…
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151: EQA of ctDNA Mutation Testing Across the COIN Consortium
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16:21
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16:21️ Episode 151: EQA of ctDNA Mutation Testing Across the COIN Consortium In this episode of PaperCast Base by Base, we explore how 16 Dutch laboratories evaluated their real‑world workflows for circulating tumor DNA (ctDNA) mutation testing across BRAF, EGFR, and KRAS using a coordinated external quality assessment within the COIN consortium. Study …
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150: Patrilineal segmentary systems and the post‑Neolithic Y‑chromosome bottleneck
17:52
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17:52️ Episode 150: Patrilineal segmentary systems and the post‑Neolithic Y‑chromosome bottleneck In this episode of PaperCast Base by Base, we explore a Nature Communications study that proposes a peaceful, socio‑cultural explanation for the sharp decline in male effective population size observed 3,000–5,000 years ago. Instead of widespread violence, …
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QOL and cognitive functioning in patients with oligodendroglioma
18:22
18:22
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18:22Dr. Iyad Alnahhas interviews Drs. Florien Boele and Martin Klein about their recent manuscript entitled: “Health-related quality of life and cognitive functioning in survivors of oligodendroglioma: An international cross-sectional investigation”, published online in Neuro-Oncology in July 2025.By Drs. Iyad Alnahhas, Florien Boele, Martin Klein
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149: Cultural Hitchhiking and the Post‑Neolithic Y‑Chromosome Bottleneck
15:04
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15:04️ Episode 149: Cultural Hitchhiking and the Post‑Neolithic Y‑Chromosome Bottleneck In this episode of PaperCast Base by Base, we explore how patrilineal social structures and intergroup competition can reshape genetic diversity, offering a cultural explanation for the striking male‑specific bottleneck observed 5,000–7,000 years ago across the Old W…
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148: Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants
14:44
14:44
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14:44️ Episode 148: Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants In this episode of PaperCast Base by Base, we explore a comprehensive functional assessment of splice-site variants in CHEK2 using reporter minigenes, revealing how disrupted pre-mRNA splicing contributes to hereditary b…
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147: Comprehensive Annotation of Complete ABO Alleles and Resolution of ABO Variants
15:37
15:37
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15:37️ Episode 147: Comprehensive Annotation of Complete ABO Alleles and Resolution of ABO Variants In this episode of PaperCast Base by Base, we explore a groundbreaking study that introduces an improved long-read sequencing method to fully resolve ABO haplotypes, spanning from the 5′ to the 3′ untranslated regions. This work addresses a major gap in b…
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146: Automated and Decentralized Genomic Profiling of Plasma Cell-Free DNA in Solid Tumors
15:56
15:56
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15:56️ Episode 146: Automated and Decentralized Genomic Profiling of Plasma Cell-Free DNA in Solid Tumors In this episode of PaperCast Base by Base, we explore the clinical feasibility of an automated and decentralized cfDNA sequencing system designed to identify actionable and resistance alterations in advanced solid tumors. Study Highlights: Researche…
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Episode 440: The History of IO in Urothelial Cancer - Part 1
45:39
45:39
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45:39Jonathan Rosenberg joins in this 2-part series on the history of IO-based therapy in Urothelial Cancer
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145: A Validated Highly Sensitive Microsatellite Instability Assay Identifies PMS2 Variants in CMMRD
16:59
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16:59️ Episode 145: A Validated Highly Sensitive Microsatellite Instability Assay Identifies PMS2 Variants in CMMRD In this episode of PaperCast Base by Base, we explore a study that validates a next-generation sequencing-based highly sensitive microsatellite instability (hs-MSI) assay for the diagnosis of constitutional mismatch repair deficiency (CMMR…
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144: Revised time estimation of the ancestral human chromosome 2 fusion
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17:10
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17:10️ Episode 144: Revised time estimation of the ancestral human chromosome 2 fusion In this episode of PaperCast Base by Base, we explore a study that revisits one of the most defining events in human evolution: the fusion that gave rise to chromosome 2. This work refines previous estimates and provides a clearer timeline for when this pivotal genomi…
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143: The genetic history of the Southern Caucasus: 5,000 years of continuity despite high mobility
18:56
18:56
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18:56️ Episode 143: The genetic history of the Southern Caucasus: 5,000 years of continuity despite high mobility In this episode of PaperCast Base by Base, we explore a comprehensive archaeogenomic study tracing 230 ancient individuals from Georgia and Armenia over 5,000 years, from the Bronze Age to the Early Middle Ages. The research investigates how…
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142: Specifications of the ACMG/AMP Guidelines for PALB2 Variant Interpretation
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16:35️ Episode 142: Specifications of the ACMG/AMP Guidelines for PALB2 Variant Interpretation In this episode of PaperCast Base by Base, we explore how the Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel (HBOP VCEP) developed gene-specific ACMG/AMP guidelines for the interpretation of PALB2 germline sequence variants, a …
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141: RetiGene, a comprehensive gene atlas for inherited retinal diseases
26:12
26:12
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26:12️ Episode 141: RetiGene, a comprehensive gene atlas for inherited retinal diseases In this episode of PaperCast Base by Base, we explore RetiGene, an expert-curated resource that consolidates genetic, transcriptomic, and functional information on inherited retinal diseases (IRDs). The study highlights the urgent need for a unified gene catalog to g…
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140: Landscapes of missense variant impact for human superoxide dismutase 1
20:18
20:18
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20:18️ Episode 140: Landscapes of missense variant impact for human superoxide dismutase 1 In this episode of PaperCast Base by Base, we explore a large-scale functional analysis of missense variants in SOD1, a key gene implicated in amyotrophic lateral sclerosis (ALS). The study addresses the challenge of classifying variants of uncertain significance …
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139: MosCoverY: A new method to estimate mosaic loss of Y chromosome from sequencing coverage data
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14:03️ Episode 139: MosCoverY: A new method to estimate mosaic loss of Y chromosome from sequencing coverage data In this episode of PaperCast Base by Base, we explore the development of MosCoverY, a computational method designed to detect and quantify mosaic loss of the Y chromosome (mLOY) from exome and whole-genome sequencing data. This condition, th…
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138: Social exposome and brain health outcomes of dementia across Latin America
19:43
19:43
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19:43️ Episode 138: Social exposome and brain health outcomes of dementia across Latin America In this episode of PaperCast Base by Base, we explore how a multidimensional social exposome across the lifespan—covering education, food insecurity, financial status, assets, access to healthcare, childhood labor, subjective socioeconomic status, childhood ex…
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137: Rethinking RNA-binding proteins: Riboregulation challenges prevailing views
25:11
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25:11️ Episode 137: Rethinking RNA-binding proteins: Riboregulation challenges prevailing views In this episode of PaperCast Base by Base, we explore how a sweeping expansion of the RNA-binding proteome has reframed long‑held assumptions about RNA–protein interactions, spotlighting ‘non‑canonical’ RBPs and the emerging concept of riboregulation—RNA dire…
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136: Gene Context Drift Identifies Drug Targets to Mitigate Cancer Treatment Resistance
14:48
14:48
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14:48️ Episode 136: Gene Context Drift Identifies Drug Targets to Mitigate Cancer Treatment Resistance In this episode of PaperCast Base by Base, we explore RECODR, a graph‑embedding pipeline that reads single‑cell and single‑nucleus transcriptomes as co‑expression networks to quantify “gene context drift” during therapy and expose druggable vulnerabili…
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Post-operative radiation in recurrent grade 1 meningiomas
19:39
19:39
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19:39Dr. Iyad Alnahhas interviews Drs. Felix Sahm and Maximilian Deng about their recent manuscript entitled: "Postoperative radiotherapy in subtotally-resected recurrent WHO grade 1 meningiomas with intermediate/ high-risk molecular profiles", published online in Neuro-Oncology in May 2025.By Drs. Felix Sahm, Maximilian Deng, Iyad Alnahhas
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135: Global impact of micronutrients in modern human evolution
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14:26
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14:26️ Episode 135: Global impact of micronutrients in modern human evolution In this episode of PaperCast Base by Base, we explore how dietary micronutrients have influenced modern human evolution. The study investigates the role of essential minerals in shaping genetic adaptation and highlights the health risks posed by imbalances in micronutrient ava…
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134: Single-Cell Maps Link Intestinal Metaplasia to Esophageal Adenocarcinoma Risk
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15:47️ Episode 134: Single-Cell Maps Link Intestinal Metaplasia to Esophageal Adenocarcinoma Risk In this episode of PaperCast Base by Base, we explore how single-cell RNA sequencing of Barrett’s esophagus (BE), esophageal adenocarcinoma (EAC), and matched normal tissues reveals which cell types carry germline-linked risk and shape progression toward ca…
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133: Culture-Independent Meta‑Pangenomics Reveals Gut Genome Links to Child Growth
24:31
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24:31️ Episode 133: Culture-Independent Meta‑Pangenomics Reveals Gut Genome Links to Child Growth In this episode of PaperCast Base by Base, we explore how long‑read metagenomics enables recovery of complete metagenome‑assembled genomes directly from fecal samples of Malawian toddlers and applies meta‑pangenomics and microbial GWAS to connect microbial …
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132: Tumor transcriptome classifiers predict treatment sensitivity in advanced prostate cancer
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20:35️ Episode 132: Tumor transcriptome classifiers predict treatment sensitivity in advanced prostate cancer In this episode of PaperCast Base by Base, we explore how transcriptome-wide RNA expression classifiers from advanced prostate cancers can inform treatment selection and improve patient outcomes. Study Highlights: Researchers analyzed tumor tran…
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Episode 438: The History of Testis Cancer Treatment
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39:22Christian Kollmannsberger joins us to walk through decades of advances in advanced testis cancer.
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131: pBI143: The Human Gut’s Hidden Heavyweight
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17:59️ Episode 131: pBI143: The Human Gut’s Hidden Heavyweight In this episode of PaperCast Base by Base, we explore how a tiny 2.7 kb cryptic plasmid, pBI143, emerges as one of the most numerous genetic elements in industrialized human gut microbiomes, mobilizes across Bacteroidales, persists as monoclonal lineages with vertical transmission, and incre…
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130: Combining Evidence from Human Genetic and Functional Screens to Identify Pathways Altering Obesity and Fat Distribution
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20:24️ Episode 130: Combining Evidence from Human Genetic and Functional Screens to Identify Pathways Altering Obesity and Fat Distribution In this episode of PaperCast Base by Base, we explore a large-scale study that integrates genetic association testing with functional CRISPR experiments in human adipocytes to uncover mechanisms influencing obesity …
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129: Structural variation and diversification of the NPIP gene family from the human pangenome
22:11
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22:11️ Episode 129: Structural variation and diversification of the NPIP gene family from the human pangenome In this episode of PaperCast Base by Base, we explore how long-read sequencing technologies reveal the structural variation, evolutionary pressures, and expression patterns of the NPIP gene family, one of the most positively selected gene famili…
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128: LINE‑1 Promoters Orchestrate Early Human Brain Development
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15:26️ Episode 128: LINE‑1 Promoters Orchestrate Early Human Brain Development In this episode of PaperCast Base by Base, we explore how evolutionarily young LINE‑1 retrotransposons are actively expressed in human induced pluripotent stem cells and function as cis‑acting promoters that shape primate‑ and human‑specific transcript isoforms during early n…
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127: In silico generation of synthetic cancer genomes using generative AI
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17:36️ Episode 127: In silico generation of synthetic cancer genomes using generative AI In this episode of PaperCast Base by Base, we explore OncoGAN, a generative AI pipeline designed to produce highly realistic synthetic cancer genomes. The study addresses the challenge of limited access to real cancer genomes due to privacy concerns by creating shar…
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126: Molecular and developmental deficits in Smith-Magenis syndrome human stem cell-derived cortical neural models
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20:59️ Episode 126: Molecular and developmental deficits in Smith-Magenis syndrome human stem cell-derived cortical neural models In this episode of PaperCast Base by Base, we explore a study that investigates the molecular and developmental mechanisms underlying Smith-Magenis syndrome (SMS) using human induced pluripotent stem cell (hiPSC)-derived cort…
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125: Tackling a disease on a global scale, the Global Parkinson’s Genetics Program, GP2: A new generation of opportunities
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22:46️ Episode 125: Tackling a disease on a global scale, the Global Parkinson’s Genetics Program, GP2: A new generation of opportunities In this episode of PaperCast Base by Base, we explore how the Global Parkinson’s Genetics Program (GP2) is addressing the critical lack of diversity in Parkinson’s disease genetics research. The article outlines the p…
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Episode 437: Uromigos Japan - バルバーサ (Erdafitinib)を実臨床でどう使うか!
44:36
44:36
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44:36Erdafitinibがついに承認されましたが、依然として多くのCQが残されています。日常診療に役立つ最新のデータをもとに、その活用法についてディスカッションしました。
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124: Exploring the Omnigenic Architecture of Selected Complex Traits
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23:47
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23:47️ Episode 124: Exploring the Omnigenic Architecture of Selected Complex Traits In this episode of PaperCast Base by Base, we explore how researchers are uncovering the organizational principles behind complex traits through the lens of the omnigenic model. The study focuses on ulcerative colitis as a case example and investigates how core and perip…
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123: Dominant‑Negative ATP5F1A Variants Uncouple Complex V and Drive Neurological Disease
18:12
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18:12️ Episode 123: Dominant‑Negative ATP5F1A Variants Uncouple Complex V and Drive Neurological Disease In this episode of PaperCast Base by Base, we explore how de novo heterozygous ATP5F1A missense variants disrupt mitochondrial ATP synthase and manifest as pediatric neurological disorders, revealing a dominant‑negative mechanism and an isolated Comp…
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122: Patient Stratification Reveals the Molecular Basis of Disease Co-Occurrences
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19:57️ Episode 122: Patient Stratification Reveals the Molecular Basis of Disease Co-Occurrences In this episode of PaperCast Base by Base, we explore a study that investigates the molecular underpinnings of why certain diseases tend to co-occur. By using large-scale RNA sequencing data, the authors present a novel approach to identify disease co-occurr…
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mRNA CAR T against GD2 in high-grade glioma models
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29:43Dr. Maya Graham interviews Dr. Jessica Foster about her and her team's recent manuscript, entitled "Transient mRNA CAR T cells targeting GD2 provide dose-adjusted efficacy against diffuse midline glioma and high-grade glioma models". This work was published online in Neuro-Oncology in May 2025.By Drs Maya Graham, Jessica Foster, Iyad Alnahhas
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121: G-quadruplexes as a Source of Vulnerability in BRCA2-deficient Granule Cell Progenitors and Medulloblastoma
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19:02️ Episode 121: G-quadruplexes as a Source of Vulnerability in BRCA2-deficient Granule Cell Progenitors and Medulloblastoma In this episode of PaperCast Base by Base, we explore how DNA secondary structures called G-quadruplexes (G4s) contribute to genome instability and tumor development in BRCA2-deficient cerebellar granule cell progenitors, leadi…
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120: Rare BMAL1 Variants Link the Circadian Clock to Neurodevelopment
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22:30️Episode 120: Rare BMAL1 Variants Link the Circadian Clock to Neurodevelopment In this episode of PaperCast Base by Base, we explore how ultrarare heterozygous variants in BMAL1—a core circadian clock gene—are associated with a neurodevelopmental syndrome featuring developmental delay, autism spectrum disorder, and musculoskeletal findings. Study H…
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119: G‑Quadruplex Stabilization Triggers Pericentromeric DNA Breaks in B Cells
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18:35️ Episode 119: G‑Quadruplex Stabilization Triggers Pericentromeric DNA Breaks in B Cells In this episode of PaperCast Base by Base, we explore how stabilizing G‑quadruplex DNA structures with small molecules reshapes genome stability in B lymphocytes, revealing fragile hotspots in pericentromeric repeats and ribosomal DNA and exposing checkpoint-de…
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