Base by Base

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.

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Avsnitt(463)

111: HANCOCK: Multimodal Dataset for Precision Oncology in Head and Neck Cancer

111: HANCOCK: Multimodal Dataset for Precision Oncology in Head and Neck Cancer

Dörrich M et al., Nature Communications - This episode summarizes HANCOCK, a monocentric multimodal dataset of 763 head and neck cancer patients combining demographics, structured pathology and blood ...

19 Aug 202517min

110: Rare coding variants implicate STAG1 and ZNF136 in schizophrenia

110: Rare coding variants implicate STAG1 and ZNF136 in schizophrenia

Chick SL et al et al., Nature Communications - Largest exome-sequencing meta-analysis to date (28,898 cases, 103,041 controls, 3,444 trios) identifies STAG1 and ZNF136 at exome-wide significance and s...

18 Aug 202520min

109: Autocrine Interferon Poisoning: ADAR1–BRCA Synthetic Lethality

109: Autocrine Interferon Poisoning: ADAR1–BRCA Synthetic Lethality

️ 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 c...

17 Aug 202518min

108: Epigenome Editing Reverses HBG Silencing

108: Epigenome Editing Reverses HBG Silencing

Bell HW et al et al., Nature Communications - This study shows that CpG methylation at proximal HBG promoters causally enforces perinatal silencing and that targeted epigenome editing can reverse that...

16 Aug 202520min

107: Host genetics of endodontic infections: FinnGen GWAS

107: Host genetics of endodontic infections: FinnGen GWAS

Salminen A et al., Nature Communications - A large GWAS in 485,230 FinnGen participants (132,124 cases) identified genetic loci associated with pulpal and apical diseases. The study highlights strong ...

15 Aug 202519min

106: Decoding Cortical Transcriptomes: GABAA Subunit Classes and Pharmacotranscriptomics

106: Decoding Cortical Transcriptomes: GABAA Subunit Classes and Pharmacotranscriptomics

Ecker C et al., Nature Communications - This episode reviews a study that develops a surface-based, vertex-level framework for genome-wide imaging transcriptomics using spatial interpolation of the Al...

14 Aug 202519min

105: When Tumors Go Neutral: Genome-Level Selection and Resistance

105: When Tumors Go Neutral: Genome-Level Selection and Resistance

Persi E et al., Nature Communications - This episode unpacks a multi-cohort study showing that tumors evolving toward neutral genome-level selection (dN/dS ≈ 1) during or after therapy are associated ...

13 Aug 202518min

104: Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation

104: Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation

Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation Music:Enjoy the music based on this article at the end of the episode. Support:Base by Base ...

12 Aug 202516min

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