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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

00:22:50

322: Bi-allelic RNU6ATAC and RNU4ATAC variants cause...

Base by Base ·

2026/03/22

Johnson MB et al., The American Journal of Human Genetics - Bi-allelic variants in snRNAs RNU6ATAC and RNU4ATAC cause infancy-onset autoimmune diabetes in humans, with RNA-seq showing U12 intron retention and impaired B cell development. Study Highlights:In human infants with early-onset diabetes and immune dysregulation, the authors used genome sequencing, RNA-seq, DNA methylation deconvolution, WGCNA, Sanger sequencing, and flow cytometry to define a

en-us

00:29:52

321: Canonical nucleobases in asteroid (162173) Ryugu...

Base by Base ·

2026/03/20

Koga T et al., et al. A complete set of canonical nucleobases in the carbonaceous asteroid (162173) Ryugu. Nature Astronomy ( - Ryugu asteroid samples analyzed by HPLC/ESI-HRMS reveal all five canonical nucleobases (adenine, guanine, cytosine, thymine, uracil) and distribution linked to ammonia. Study Highlights:The team analysed Ryugu aggregate samples A0480 and C0370 and the Orgueil meteorite using water and HCl extraction followed by HPLC/ESI-HRMS,

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00:23:15

320: Sex-stratified cQTL mapping identifies TOX...

Base by Base ·

2026/03/19

Amour C et al., Human Genetics and Genomics Advances, Journal Pre-proof - Sex-stratified cQTL mapping in Tanzanian and Dutch adults identifies sex-specific regulators such as TOX-linked IFN-γ in males and EGFR-linked IL-10 in females, revealing multiple genome-wide cQTLs. Study Highlights:The study analyzed cytokine production after ex vivo stimulation in two human cohorts (Tanzania 300TZFG and Dutch 500FG) using sex-stratified cytokine QTL mapping with

en-us

00:23:15

320: Sex-stratified cQTL mapping identifies TOX...

Base by Base ·

2026/03/19

Amour C et al., Human Genetics and Genomics Advances, Journal Pre-proof - Sex-stratified cQTL mapping in Tanzanian and Dutch adults identifies sex-specific regulators such as TOX-linked IFN-γ in males and EGFR-linked IL-10 in females, revealing multiple genome-wide cQTLs. Study Highlights:The study analyzed cytokine production after ex vivo stimulation in two human cohorts (Tanzania 300TZFG and Dutch 500FG) using sex-stratified cytokine QTL mapping with

en-us

00:23:35

319: Predicting reduced-penetrance TP53 variants from...

Base by Base ·

2026/03/18

Fortuno C et al., Human Genetics and Genomics Advances - TP53 germline variant analysis using functional assays finds reduced-penetrance variants have intermediate activity, higher frequency, later onset, and 106 predicted candidates. Study Highlights:Using ClinVar curation and comparison to benign and pathogenic reference sets, the authors analyzed TP53 germline variants with multiple functional assays, bioinformatic predictors, immune-fitness scores,

en-us

00:23:35

319: Predicting reduced-penetrance TP53 variants from...

Base by Base ·

2026/03/18

Fortuno C et al., Human Genetics and Genomics Advances - TP53 germline variant analysis using functional assays finds reduced-penetrance variants have intermediate activity, higher frequency, later onset, and 106 predicted candidates. Study Highlights:Using ClinVar curation and comparison to benign and pathogenic reference sets, the authors analyzed TP53 germline variants with multiple functional assays, bioinformatic predictors, immune-fitness scores,

en-us

00:21:30

318: RNU6ATAC variants cause U6atac-driven minor...

Base by Base ·

2026/03/18

Mendez R et al., Human Genetics and Genomics Advances, Journal Pre-proof - Biallelic RNU6ATAC variants disrupt the U6atac minor spliceosomal snRNA, causing transcriptome-wide minor intron retention and short stature with variable multisystem manifestations. Study Highlights:This study analyzed three unrelated human individuals using RNA-seq on whole-blood and fibroblasts and applied a FRASER-based minor intron retention (MIR) outlier pipeline alongside

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00:21:10

317: COPD sQTL colocalization in lung and blood...

Base by Base ·

2026/03/16

Saferali A et al., Human Genetics and Genomics Advances - RNA-seq in human lung (LTRC) and blood (COPDGene) reveals COPD-associated variants colocalize with splicing QTLs, implicating FBXO38 cryptic exon NMD and BTC exon4 isoform shifts. Study Highlights:The study analyzed RNA-seq from COPDGene whole blood (n≈3,743) and LTRC lung tissue (n=1,241) using LeafCutter for splicing and tensorQTL for cis associations, followed by Moloc colocalization and

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00:21:10

317: COPD sQTL colocalization in lung and blood...

Base by Base ·

2026/03/16

Saferali A et al., Human Genetics and Genomics Advances - RNA-seq in human lung (LTRC) and blood (COPDGene) reveals COPD-associated variants colocalize with splicing QTLs, implicating FBXO38 cryptic exon NMD and BTC exon4 isoform shifts. Study Highlights:The study analyzed RNA-seq from COPDGene whole blood (n≈3,743) and LTRC lung tissue (n=1,241) using LeafCutter for splicing and tensorQTL for cis associations, followed by Moloc colocalization and

en-us

00:23:18

316: Inclusion bias in UCLA ATLAS: enrollment models,...

Base by Base ·

2026/03/14

Pimplaskar A et al., The American Journal of Human Genetics - In UCLA ATLAS EHR-linked biobank analyses, random forest-derived enrollment probabilities and inverse-probability weighting increased replication of known GWAS variants and altered PGS associations. Study Highlights:Using the UCLA ATLAS EHR-linked biobank, the authors trained random forest classifiers on demographics, healthcare utilization, and ICD-10 features to distinguish enrolled from

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00:23:59

315: PLE11-encoded Rta restricts ICP1 tail assembly...

Base by Base ·

2026/03/12

Mathur Y et al., E., Monir M. M., Islam M. T., Sultana M., Ahmed T., Alam M. & Seed K. D. Capturing dynamic phage–pathogen coevolution by clinical surveillance. Nature ( - Clinical surveillance in Bangladesh shows Vibrio cholerae acquired PLE11 encoding Rta that restricts ICP1 tail assembly, driving a selective sweep of phage-resistant strains. Study Highlights:This study analysed clinical Vibrio cholerae and ICP1 isolates from stool in Bangladesh

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00:23:59

315: PLE11-encoded Rta restricts ICP1 tail assembly...

Base by Base ·

2026/03/12

Mathur Y et al., E., Monir M. M., Islam M. T., Sultana M., Ahmed T., Alam M. & Seed K. D. Capturing dynamic phage–pathogen coevolution by clinical surveillance. Nature ( - Clinical surveillance in Bangladesh shows Vibrio cholerae acquired PLE11 encoding Rta that restricts ICP1 tail assembly, driving a selective sweep of phage-resistant strains. Study Highlights:This study analysed clinical Vibrio cholerae and ICP1 isolates from stool in Bangladesh

en-us

00:22:41

314: Proactive Genomic Reanalysis at Boston...

Base by Base ·

2026/03/11

Rockowitz S et al., Scaling genomic reanalysis to unlock diagnoses and transform rare disease care. Human Genetics and Genomics Advances - Boston Children's Hospital used VS-NN, HPO NLP, and DRAGEN reprocessing in a proactive genomic reanalysis to identify candidate diagnoses in 2% of pediatric ES/GS cases. Study Highlights:The study deployed a centralized Proactive Genomic Reanalysis (PGR) workflow on a Boston Children’s Hospital pediatric ES/GS cohort

en-us

00:24:46

313: Integrating Polygenic Risk Scores and Social...

Base by Base ·

2026/03/10

Cromer SJ et al., The American Journal of Human Genetics - This paper reviews polygenic risk scores (PRS) and social determinants of health (SDoH) and outlines best practices for integrating PRS and SDoH across diverse populations to improve prediction and equity. Study Highlights:This review focuses on human populations and uses conceptual frameworks, hypothetical population examples, and synthesis of methodological studies to evaluate PRS and SDoH

en-us

00:24:46

313: Integrating Polygenic Risk Scores and Social...

Base by Base ·

2026/03/10

Cromer SJ et al., The American Journal of Human Genetics - This paper reviews polygenic risk scores (PRS) and social determinants of health (SDoH) and outlines best practices for integrating PRS and SDoH across diverse populations to improve prediction and equity. Study Highlights:This review focuses on human populations and uses conceptual frameworks, hypothetical population examples, and synthesis of methodological studies to evaluate PRS and SDoH

en-us

00:14:53

312: Mfsd2a transports LPC to maintain epidermal...

Base by Base ·

2026/03/09

Wong BHH et al., PNAS - Mouse and human studies show the LPC transporter Mfsd2a enables plasma-derived LPC uptake into keratinocytes, preserving linoleate-rich phosphatidylcholine pools and promoting epidermal differentiation. Study Highlights:Using epidermis-specific (2aEpKO) and conventional (2aKO) Mfsd2a-deficient mice, lineage tracing, untargeted shotgun lipidomics, LightOx-LPC uptake assays, and primary human keratinocyte cultures, the authors

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00:42:24

311: mtG3PDH (GPO1) loss in Drosophila impairs...

Base by Base ·

2026/03/08

Herpe L et al., PNAS - CRISPR knockout of Drosophila mtG3PDH (GPO1) reduces ATP production by ~60% and O2 consumption by ~33%, lowering mitochondrial efficiency and ROS emission. Study Highlights:Using CRISPR/Cas9-generated GPO1 mutant Drosophila and isolated thoracic mitochondria, the authors combined enzymatic assays, ATP production and oxygen consumption measurements, and H2O2 emission assays to probe mtG3PDH function. Loss of mtG3PDH markedly reduced

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00:42:24

311: mtG3PDH (GPO1) loss in Drosophila impairs...

Base by Base ·

2026/03/08

Herpe L et al., PNAS - CRISPR knockout of Drosophila mtG3PDH (GPO1) reduces ATP production by ~60% and O2 consumption by ~33%, lowering mitochondrial efficiency and ROS emission. Study Highlights:Using CRISPR/Cas9-generated GPO1 mutant Drosophila and isolated thoracic mitochondria, the authors combined enzymatic assays, ATP production and oxygen consumption measurements, and H2O2 emission assays to probe mtG3PDH function. Loss of mtG3PDH markedly reduced

en-us

00:49:10

310: Infant gut microbiota restoration — maternal...

Base by Base ·

2026/03/07

Korpela K et al., Gut Microbes - Review finds maternal fecal microbiota transplantation and targeted probiotics can restore Bifidobacterium and Bacteroides after C‑section or intrapartum antibiotics, with breastfeeding aiding recovery. Study Highlights:This review focuses on term infants, particularly C‑section and intrapartum antibiotic–exposed neonates, synthesizing cohort and intervention data using 16S rRNA gene amplicon sequencing and metagenomic

en-us

00:43:37

310: Infant gut microbiota restoration — maternal...

Base by Base ·

2026/03/07

Korpela K et al., Gut Microbes - Review finds maternal fecal microbiota transplantation and targeted probiotics can restore Bifidobacterium and Bacteroides after C‑section or intrapartum antibiotics, with breastfeeding aiding recovery. Study Highlights:This review focuses on term infants, particularly C‑section and intrapartum antibiotic–exposed neonates, synthesizing cohort and intervention data using 16S rRNA gene amplicon sequencing and metagenomic

en-us

556 results

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