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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

00:17:41

284: FES, VSMC behavior and pleiotropic vascular...

Base by Base ·

2026/02/08

Solomon CU et al., Nat Commun ( - Integrative analysis in human VSMCs identifies pleiotropic genes including FES that regulate vascular remodeling; pooled CRISPR and mouse knockout show FES loss increases MMPs, atherosclerosis and blood pressure. Study Highlights:The study used a large human umbilical cord‑derived VSMC eQTL bank (n=1,486) combined with colocalization (eCAVIAR, SMR/HEIDI), ATAC‑seq, DNA methylation, H3K27ac HiChIP and pooled CRISPR‑Cas9

en-us

00:18:17

283: Confidence in genetic knowledge drives...

Base by Base ·

2026/02/07

Ramírez Renta GM et al., The American Journal of Human Genetics - GALS survey of >4,000 US respondents (GenPop and SPARK) shows confidence in genetic knowledge predicts Familiarity, Knowledge, and Skills, explaining ~25% of variance. Study Highlights:Using the Genetic and Autism Literacy Survey (GALS) in two US samples (GenPop and SPARK; n>4,000), the authors measured three genetic literacy components: Familiarity, Knowledge, and Skills via

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00:20:00

282: Gene-specific variance-control corrects...

Base by Base ·

2026/02/06

Liang Y et al., The American Journal of Human Genetics. 113 ( - TWAS using genetically predicted expression exhibit polygenicity-driven inflation that increases with GWAS sample size and heritability; a gene-specific variance-control correction yields calibrated p values. Study Highlights:The authors evaluated TWAS and related xWAS using simulated polygenic null traits and UK Biobank genotypes with predicted mediators including gene expression,

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00:20:00

282: Gene-specific variance-control corrects...

Base by Base ·

2026/02/06

Liang Y et al., The American Journal of Human Genetics. 113 ( - TWAS using genetically predicted expression exhibit polygenicity-driven inflation that increases with GWAS sample size and heritability; a gene-specific variance-control correction yields calibrated p values. Study Highlights:The authors evaluated TWAS and related xWAS using simulated polygenic null traits and UK Biobank genotypes with predicted mediators including gene expression,

en-us

00:20:37

281: Variant-level mapping of ACTB and ACTG1 defines...

Base by Base ·

2026/02/06

Di Donato N et al., The American Journal of Human Genetics. 113:324-341 ( - Analysis of 290 individuals with ACTB and ACTG1 variants defines eight distinct non-muscle actinopathies and links BWCFF-causing variants to altered actin polymerization dynamics. Study Highlights:The study assembled a clinical-genomic cohort of 290 individuals with P/LP ACTB or ACTG1 variants and used expert phenotyping plus GestaltMatcher facial analysis to delineate eight

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00:17:04

280: SCD, FADS and a 3p25.2 (PPARG) locus shape fatty...

Base by Base ·

2026/02/04

Yan X et al., The American Journal of Human Genetics, Corrected proof - In 569 TwinsUK subcutaneous adipose biopsies, twin models and GWAS identify SCD, FADS and 3p25.2 (PPARG) loci regulating fatty acid levels and conversions. Study Highlights:System and sample: 569 female TwinsUK subcutaneous adipose biopsies with matched serum, RNA-seq and 450K methylation data were analyzed. Key methods: gas chromatography fatty acid profiling, ACE twin heritability

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00:17:04

280: SCD, FADS and a 3p25.2 (PPARG) locus shape fatty...

Base by Base ·

2026/02/04

Yan X et al., The American Journal of Human Genetics, Corrected proof - In 569 TwinsUK subcutaneous adipose biopsies, twin models and GWAS identify SCD, FADS and 3p25.2 (PPARG) loci regulating fatty acid levels and conversions. Study Highlights:System and sample: 569 female TwinsUK subcutaneous adipose biopsies with matched serum, RNA-seq and 450K methylation data were analyzed. Key methods: gas chromatography fatty acid profiling, ACE twin heritability

en-us

00:20:15

279: Against the Uncritical Adoption of AI in...

Base by Base ·

2026/02/03

Guest, O et al., Zenodo (2025) - Position piece urging universities to resist uncritical adoption of AI technologies such as LLMs and chatbots because they undermine academic freedom, integrity, and pedagogical skills. Study Highlights:A co-authored open letter, conceptual analysis, and literature synthesis drawing on historical and contemporary sources. The authors analyse how AI industry marketing, ambiguous jargon, closed-source models, and extractive

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00:20:15

279: Against the Uncritical Adoption of AI in...

Base by Base ·

2026/02/03

Guest, O et al., Zenodo (2025) - Position piece urging universities to resist uncritical adoption of AI technologies such as LLMs and chatbots because they undermine academic freedom, integrity, and pedagogical skills. Study Highlights:A co-authored open letter, conceptual analysis, and literature synthesis drawing on historical and contemporary sources. The authors analyse how AI industry marketing, ambiguous jargon, closed-source models, and extractive

en-us

00:19:06

278: Illumina, Grail and FTC scrutiny of vertical...

Base by Base ·

2026/02/02

Rashid AI et al., The American Journal of Human Genetics - US antitrust shifts in human genetic technologies: FTC scrutiny of Illumina’s acquisition of Grail alters NGS market oversight and could affect spin-offs and startups. Study Highlights:This perspective examines the US legal and regulatory landscape for human genetic and genomic technologies, focusing on FTC and DOJ policy changes and enforcement habits. Using a case-study approach centered on

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00:18:27

277: MDGA2 homozygous loss-of-function variants in...

Base by Base ·

2026/02/01

Morsy H et al., The American Journal of Human Genetics - Exome sequencing identifies homozygous MDGA2 loss-of-function variants in nine individuals and functional neuronal assays show impaired MDGA2 trafficking with disrupted Nlgn1-dependent excitatory synapse regulation causing DEE. Study Highlights:Exome sequencing of consanguineous families identified seven distinct homozygous MDGA2 loss-of-function variants in nine individuals with severe

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00:19:40

276: AlphaGenome: 1-Mb multimodal deep model predicts...

Base by Base ·

2026/01/30

Avsec et al., Advancing regulatory variant effect prediction with AlphaGenome. Nature 649, 1206–1218 ( - AlphaGenome, a 1 Mb DNA deep‑learning model, predicts base‑pair‑resolution genome tracks (RNA‑seq, splicing, chromatin) and scores variant effects, achieving state‑of‑the‑art performance across modalities. Study Highlights:AlphaGenome is a unified sequence‑to‑function deep learning model trained on human and mouse genomes that consumes 1 Mb of DNA and

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00:19:40

276: AlphaGenome: 1-Mb multimodal deep model predicts...

Base by Base ·

2026/01/30

Avsec et al., Advancing regulatory variant effect prediction with AlphaGenome. Nature 649, 1206–1218 ( - AlphaGenome, a 1 Mb DNA deep‑learning model, predicts base‑pair‑resolution genome tracks (RNA‑seq, splicing, chromatin) and scores variant effects, achieving state‑of‑the‑art performance across modalities. Study Highlights:AlphaGenome is a unified sequence‑to‑function deep learning model trained on human and mouse genomes that consumes 1 Mb of DNA and

en-us

00:19:55

275: MIPseq/WES of 11,555 CHD probands implicates 60...

Base by Base ·

2026/01/30

Sierant MC et al., PNAS - MIPseq and exome sequencing of 11,555 human congenital heart disease probands implicate 60 dominant CHD genes, with NOTCH1 cysteine‑altering and transmitted MYH6 missense variants driving distinct defects. Study Highlights:We analyzed 11,555 human CHD probands from PCGC and PHN using a 248‑gene MIPseq panel and whole‑exome sequencing. A meta‑analysis of de novo and very rare transmitted/unphased damaging variants identified 60

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00:19:55

275: MIPseq/WES of 11,555 CHD probands implicates 60...

Base by Base ·

2026/01/30

Sierant MC et al., PNAS - MIPseq and exome sequencing of 11,555 human congenital heart disease probands implicate 60 dominant CHD genes, with NOTCH1 cysteine‑altering and transmitted MYH6 missense variants driving distinct defects. Study Highlights:We analyzed 11,555 human CHD probands from PCGC and PHN using a 248‑gene MIPseq panel and whole‑exome sequencing. A meta‑analysis of de novo and very rare transmitted/unphased damaging variants identified 60

en-us

00:22:16

274: RPE-specific MCT2 gene delivery preserves cones...

Base by Base ·

2026/01/29

Chandler LC et al., PNAS - AAV-mediated RPE expression of MCT2 in rat and mouse retinitis pigmentosa models increases RPE lactate uptake and prolongs cone photoreceptor survival and function. Study Highlights:Neonatal subretinal AAV8.Best1.MCT2 delivery was tested in multiple RP models (S334ter rats, FVB and P23H mice) and produced a statistically significant increase in surviving cones and transient preservation of optomotor visual acuity. The study

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00:18:54

274: RPE-specific MCT2 gene delivery preserves cones...

Base by Base ·

2026/01/29

Chandler LC et al., PNAS - AAV-mediated RPE expression of MCT2 in rat and mouse retinitis pigmentosa models increases RPE lactate uptake and prolongs cone photoreceptor survival and function. Study Highlights:Neonatal subretinal AAV8.Best1.MCT2 delivery was tested in multiple RP models (S334ter rats, FVB and P23H mice) and produced a statistically significant increase in surviving cones and transient preservation of optomotor visual acuity. The study

en-us

00:18:32

273: CTVT-A acquires 15-Mb N-HT1 dicentric nuclear...

Base by Base ·

2026/01/28

Gori K et al., PNAS - In canine transmissible venereal tumor (CTVT), deep sequencing and cytogenetics identify a 15‑Mb horizontally transferred nuclear element (N-HT1) acquired ~2,000 years ago that is transcriptionally active. Study Highlights:The authors screened 174 transmissible tumor genomes, focusing on CTVT, DFT1, and DFT2, using deep short-read sequencing, long-read PacBio sequencing, structural variant analysis, and metaphase FISH. In CTVT-A

en-us

00:18:32

273: CTVT-A acquires 15-Mb N-HT1 dicentric nuclear...

Base by Base ·

2026/01/28

Gori K et al., PNAS - In canine transmissible venereal tumor (CTVT), deep sequencing and cytogenetics identify a 15‑Mb horizontally transferred nuclear element (N-HT1) acquired ~2,000 years ago that is transcriptionally active. Study Highlights:The authors screened 174 transmissible tumor genomes, focusing on CTVT, DFT1, and DFT2, using deep short-read sequencing, long-read PacBio sequencing, structural variant analysis, and metaphase FISH. In CTVT-A

en-us

00:22:11

272: ADSL A429V reduces purine biosynthesis in brain...

Base by Base ·

2026/01/27

Ju X-C et al., PNAS - Human-specific ADSL A429V substitution and a common regulatory haplotype reduce ADSL activity and raise purine substrates in the brain, altering mouse behavior. Study Highlights:Model: mice humanized for ADSL carrying the modern-human A429V (with R428Q) were compared to wild-type littermates using ultraperformance LC–Orbitrap metabolomics and automated IntelliCage behavioral assays. Mechanistic/quantitative result: SAICAr and S-Ado

en-us

448 results

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