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.
️ 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, Apolipo…
️ 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 ol…
️ 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…
️ 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 …
️ 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 carr…
️ 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 n…
️ 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 N…
️ 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 or…
️ 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 resha…
️ 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 fr…
️ 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 sequen…
️ 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 prot…
️ 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 betwe…
️ 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 eleme…
️ 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 individua…
️ 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 leverage…
️ 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 2…
️ 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 …
️ 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), publ…
️ 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 s…