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(441)

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

103: Genome Sequencing Forecasts Outcomes After Congenital Cardiac Surgery

103: Genome Sequencing Forecasts Outcomes After Congenital Cardiac Surgery

Genome Sequencing Forecasts Outcomes After Congenital Cardiac Surgery Music:Enjoy the music based on this article at the end of the episode. Support:Base by Base is independent and ad-free — no spon...

11 Aug 202517min

102: Clinical Impact of Pharmacogenetic Risk Variants in a Large Chinese Cohort

102: Clinical Impact of Pharmacogenetic Risk Variants in a Large Chinese Cohort

Clinical Impact of Pharmacogenetic Risk Variants in a Large Chinese Cohort Music:Enjoy the music based on this article at the end of the episode. Support:Base by Base is independent and ad-free — no...

10 Aug 202514min

101: JAK2 Inhibition Selects RAS-Mutant Clones in Myelofibrosis

101: JAK2 Inhibition Selects RAS-Mutant Clones in Myelofibrosis

JAK2 Inhibition Selects RAS-Mutant Clones in Myelofibrosis Music:Enjoy the music based on this article at the end of the episode. Support:Base by Base is independent and ad-free — no sponsors, no pa...

9 Aug 202518min

100: ALMA: Epigenomic diagnosis & prognosis of AML

100: ALMA: Epigenomic diagnosis & prognosis of AML

Marchi F et al., Nature Communications - This study builds the Acute Leukemia Methylome Atlas (ALMA) from 3,314 patient methylomes and presents three models—ALMA Subtype, AML Epigenomic Risk, and a 38...

8 Aug 202514min

99: NXT2: a testis-specific RNA export hub essential for human spermatogenesis

99: NXT2: a testis-specific RNA export hub essential for human spermatogenesis

Dicke A-K et al., Nature Communications - Proteomics, molecular and genetic analyses identify NXT2 as the predominant NXT protein in the human testis that binds NXF1, NXF2 and NXF3 and associates with...

7 Aug 202514min

98: Cell Marker Accordion: Interpretable Single-Cell & Spatial Annotation

98: Cell Marker Accordion: Interpretable Single-Cell & Spatial Annotation

Busarello E et al., Nature Communications - This episode covers the Cell Marker Accordion, an integrated marker database plus R package and Shiny app that weights marker genes by specificity and evide...

6 Aug 202519min

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