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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

00:14:44

️ 100: Epigenomic Diagnosis and Prognosis of Acute...

Base by Base ·

2025/08/08

️ 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 (ALMA), integrating large-scale DNA methylation data, machine learning, and long-read sequencing to refine

en-us

00:14:36

️ 99: NXT2: A Testis-Specific RNA Export Factor...

Base by Base ·

2025/08/07

️ 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 uncovered a specialized interactome of NXT2 that associates with nuclear export factors NXF1, NXF2, and NXF3 as

en-us

00:19:20

️ 98: Cell Marker Accordion: Interpretable...

Base by Base ·

2025/08/06

️ 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 and interpretation of single-cell and spatial omics data across both physiological and pathological contexts

en-us

00:21:43

️ 97: Pancreatic Cancer Genomics: Insights from the...

Base by Base ·

2025/08/05

️ 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 advanced PDAC patients, generating whole genome and RNA sequencing data before chemotherapy initiation. Distinct

en-us

00:16:39

️ 96: Early Cerebrospinal Fluid Proteomic Changes in...

Base by Base ·

2025/08/04

️ 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 (ADAD). This study uncovers unique and shared molecular signatures across these conditions, with a particular

en-us

00:19:10

️ 95: Mitochondria on the Move: Biotechnological...

Base by Base ·

2025/08/03

️ 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:The authors review current approaches for isolating and delivering mitochondria, including liposomal

en-us

00:20:29

️ 94: Intraindividual Epigenetic Heterogeneity in...

Base by Base ·

2025/08/02

️ 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 prostate cancer. Study Highlights: The research team performed multi-omic profiling combining reduced

en-us

00:19:01

️ 93: Neuroinvasive and Pulmonary Virulence of H5N1...

Base by Base ·

2025/08/01

️ 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 and public health. Study Highlights:Using intranasal and orogastric inoculation of C57BL/6J and BALB/c mice

en-us

00:16:48

🎙️ 92: Genetic Loss of CFHR5 Function Protects...

Base by Base ·

2025/07/31

🎙️ 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 investigates their impact on complement activation and retinal structure.🔍 Study Highlights:The researchers performed association testing, statistical

en-us

00:16:49

️ 92: Genetic Loss of CFHR5 Function Protects Against...

Base by Base ·

2025/07/31

️ 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 investigates their impact on complement activation and retinal structure. Study Highlights:The researchers

en-us

00:17:42

️ 91: Genome-wide Association of Plasma N-Glycome...

Base by Base ·

2025/07/30

️ 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 pathways. Study Highlights:We conducted a meta-analysis of genome-wide association studies on 10,000

en-us

00:17:41

🎙️ 91: Genome-wide Association of Plasma N-Glycome...

Base by Base ·

2025/07/30

🎙️ 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 pathways.🔍 Study Highlights:We conducted a meta-analysis of genome-wide association studies on 10,000 individuals from seven cohorts to identify

en-us

00:15:57

️ 90: Variable and Interactive Effects of Sex, APOE...

Base by Base ·

2025/07/29

️ 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 imaging and causal path analysis. Study Highlights:This multi-cohort investigation combined PET imaging and

en-us

00:15:56

🎙️ 90: Variable and Interactive Effects of Sex, APOE...

Base by Base ·

2025/07/29

🎙️ 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 imaging and causal path analysis.🔍 Study Highlights:This multi-cohort investigation combined PET imaging and genetic data from over 1,300 participants

en-us

00:20:27

🎙️ 89: Decoding the Genetics of Smell: Sex-Specific...

Base by Base ·

2025/07/28

🎙️ 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’ Sticks screening test across four European cohorts totaling 21,495 individuals, the authors conducted a genome-wide association meta-analysis of twelve

en-us

00:20:28

️ 89: Decoding the Genetics of Smell: Sex-Specific...

Base by Base ·

2025/07/28

️ 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’ Sticks screening test across four European cohorts totaling 21,495 individuals, the authors conducted a

en-us

00:18:27

🎙️ 88: Stable Heritability of Type 1 Diabetes Over...

Base by Base ·

2025/07/27

🎙️ 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 incidence.🔍 Study Highlights:Leveraging data from nearly three million children born in Sweden between 1982 and 2010, the authors estimated heritability and

en-us

00:18:28

️ 88: Stable Heritability of Type 1 Diabetes Over...

Base by Base ·

2025/07/27

️ 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 incidence. Study Highlights:Leveraging data from nearly three million children born in Sweden between 1982 and 2010,

en-us

00:20:20

️ 87: Circulating cfDNA Methylation Reveals Allograft...

Base by Base ·

2025/07/26

️ 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 post-operative month. Study Highlights:The authors performed hybridization capture-sequencing of

en-us

00:20:19

🎙️ 87: Circulating cfDNA Methylation Reveals...

Base by Base ·

2025/07/26

🎙️ 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 post-operative month.🔍 Study Highlights:The authors performed hybridization capture-sequencing of bisulfite-treated cfDNA from 130 serial blood samples

en-us

452 results

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