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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

00:22:08

113: Joint, Multifaceted Genomic Analysis Enables...

Base by Base ·

2025/08/21

️ Episode 113: Joint, Multifaceted Genomic Analysis Enables Diagnosis of Ultra-Rare Monogenic Presentations In this episode of PaperCast Base by Base, we explore how the Undiagnosed Diseases Network (UDN) applied whole‑genome sequencing and new, well‑calibrated statistics to jointly analyze diverse, ultra‑rare monogenic cases across the consortium, yielding confirmed and putative diagnoses while enabling privacy‑preserving cross‑cohort discovery via

en-us

00:22:08

113: Joint, Multifaceted Genomic Analysis Enables...

Base by Base ·

2025/08/21

️ Episode 113: Joint, Multifaceted Genomic Analysis Enables Diagnosis of Ultra-Rare Monogenic Presentations In this episode of PaperCast Base by Base, we explore how the Undiagnosed Diseases Network (UDN) applied whole‑genome sequencing and new, well‑calibrated statistics to jointly analyze diverse, ultra‑rare monogenic cases across the consortium, yielding confirmed and putative diagnoses while enabling privacy‑preserving cross‑cohort discovery via

en-us

00:21:16

112: Local Genetic Sex Differences in Quantitative...

Base by Base ·

2025/08/20

️ Episode 112: Local Genetic Sex Differences in Quantitative Traits In this episode of PaperCast Base by Base, we explore how genetic differences between males and females are distributed across the genome, moving beyond global averages of heritability and correlation. The study introduces a fine-scale approach using LAVA to examine local genetic sex differences across 157 quantitative traits in the UK Biobank. Study Highlights:The researchers analyzed

en-us

00:21:16

112: Local Genetic Sex Differences in Quantitative...

Base by Base ·

2025/08/20

️ Episode 112: Local Genetic Sex Differences in Quantitative Traits In this episode of PaperCast Base by Base, we explore how genetic differences between males and females are distributed across the genome, moving beyond global averages of heritability and correlation. The study introduces a fine-scale approach using LAVA to examine local genetic sex differences across 157 quantitative traits in the UK Biobank. Study Highlights:The researchers analyzed

en-us

00:17:06

111: A Multimodal Dataset for Precision Oncology in...

Base by Base ·

2025/08/19

️ Episode 111: A Multimodal Dataset for Precision Oncology in Head and Neck Cancer In this episode of PaperCast Base by Base, we explore the creation of HANCOCK, a comprehensive multimodal dataset designed to advance precision oncology in head and neck cancer. The study addresses the urgent need for large, publicly available datasets to improve biomarker discovery and outcome prediction in this challenging disease. Study Highlights:The HANCOCK dataset

en-us

00:17:06

111: A Multimodal Dataset for Precision Oncology in...

Base by Base ·

2025/08/19

️ Episode 111: A Multimodal Dataset for Precision Oncology in Head and Neck Cancer In this episode of PaperCast Base by Base, we explore the creation of HANCOCK, a comprehensive multimodal dataset designed to advance precision oncology in head and neck cancer. The study addresses the urgent need for large, publicly available datasets to improve biomarker discovery and outcome prediction in this challenging disease. Study Highlights:The HANCOCK dataset

en-us

00:20:31

110: Whole-exome sequencing identifies new...

Base by Base ·

2025/08/18

️ 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, researchers provide the most comprehensive analysis to date of rare coding variants in this psychiatric disorder.

en-us

00:18:10

109: Autocrine Interferon Poisoning: ADAR1–BRCA...

Base by Base ·

2025/08/17

️ 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 focused PRR siRNA screen and multiple orthogonal validations revealed a robust synthetic lethality between

en-us

00:20:53

108: Epigenome Editing Reverses HBG Silencing

Base by Base ·

2025/08/16

️ 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 erythroid cells (HUDEP2) pinpointed UHRF1, a DNMT1 cofactor, as a mediator of HBG repression; its disruption

en-us

00:19:07

107: Genome-wide Association Study Reveals Genetic...

Base by Base ·

2025/08/15

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, researchers identified genetic loci linked to susceptibility to endodontic infections, independent of

en-us

00:19:25

106: Decoding Brain Maps for Pharmacotranscriptomics

Base by Base ·

2025/08/14

️ 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 work validates gene–protein correspondences in the serotonergic system and then dissects how GABAA_AA

en-us

00:18:28

Episode 105: Genome-level Selection as a Universal...

Base by Base ·

2025/08/13

️ 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 types—both treated and untreated—the study uncovers a consistent evolutionary signal that correlates with

en-us

00:16:56

104: Cross-population GWAS and proteomics improve...

Base by Base ·

2025/08/12

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 risk prediction for atrial fibrillation (AF). Study Highlights:The authors meta-analyzed AF across

en-us

00:17:56

103: Genome Sequencing Forecasts Outcomes After...

Base by Base ·

2025/08/11

️ 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, the study links specific genetic pathways to real-world postoperative risks and shows how genomics sharpens

en-us

00:14:38

102: Clinical Impact of Pharmacogenetic Risk Variants...

Base by Base ·

2025/08/10

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 486,956 Han Chinese participants, quantifying how pharmacogenetic risk variants shape adverse drug events and

en-us

00:18:25

101: JAK2 Inhibition Selects RAS-Mutant Clones in...

Base by Base ·

2025/08/09

️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 the broader landscape of genomics, functional and structural genomics, and proteomics—touching on themes like

en-us

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

448 results

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