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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

00:16:49

️ 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

00:15:56

🎙️ 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

00:15:57

️ 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

00:20:28

️ 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

00:20:27

🎙️ 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

00:18:27

🎙️ 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

00:20:19

🎙️ 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

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

00:19:26

🎙️ 86: Variable Penetrance in Monogenic Traits — How...

Base by Base ·

2025/07/25

🎙️ 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 interpretation, and the interplay between rare and common genetic effects.🔍 Study Highlights:The researchers analyzed exome and clinical data from

en-us

00:19:27

️ 86: Variable Penetrance in Monogenic Traits — How...

Base by Base ·

2025/07/25

️ 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 interpretation, and the interplay between rare and common genetic effects. Study Highlights:The researchers

en-us

00:23:15

️ 85: Genomic landscape of virus-associated cancers

Base by Base ·

2025/07/24

️ 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 Highlights:The authors aggregated genomic data from 1,971 tumors spanning nine virus-associated cancers and

en-us

00:23:14

🎙️ 85: Genomic landscape of virus-associated cancers

Base by Base ·

2025/07/24

🎙️ 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 Highlights:The authors aggregated genomic data from 1,971 tumors spanning nine virus-associated cancers and performed comprehensive analyses of mutation

en-us

00:17:12

️ 84: Variants in NR6A1 cause a novel...

Base by Base ·

2025/07/23

️ 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, vertebral anomalies, and congenital kidney abnormalities. Study Highlights:We performed genome sequencing in

en-us

00:17:11

🎙️ 84: Variants in NR6A1 cause a novel...

Base by Base ·

2025/07/23

🎙️ 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, vertebral anomalies, and congenital kidney abnormalities.🔍 Study Highlights:We performed genome sequencing in six independent families affected by

en-us

00:25:46

🎙️ 83: Single-cell Analysis of dup15q Syndrome...

Base by Base ·

2025/07/22

🎙️ 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.🔍 Study Highlights:The authors performed single-cell and single-nucleus transcriptomic profiling on cortical organoids and postmortem cortical

en-us

00:25:47

️ 83: Single-cell Analysis of dup15q Syndrome...

Base by Base ·

2025/07/22

️ 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. Study Highlights:The authors performed single-cell and single-nucleus transcriptomic profiling on cortical

en-us

00:19:06

🎙️ 82: JAK2 Inhibition Drives RAS Pathway Mutant...

Base by Base ·

2025/07/21

🎙️ 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 conducted a longitudinal molecular analysis of myelofibrosis patients treated with ruxolitinib and observed a marked accumulation of RAS pathway

en-us

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