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(443)

43: Population heterogeneity, insulin sensitivity, proteome & signaling mapping

43: Population heterogeneity, insulin sensitivity, proteome & signaling mapping

Kjærgaard J et al., Cell - This episode reviews a study that links in vivo insulin sensitivity phenotyping with proteome and signaling-pathway mapping to define molecular-phenotype associations across...

11 Juni 202519min

42: Amino acids catalyse RNA formation under ambient alkaline conditions

42: Amino acids catalyse RNA formation under ambient alkaline conditions

Rout SK et al., Nature Communications - A Nature Communications study shows that proteinogenic amino acids accelerate non-enzymatic RNA oligomerisation from ribonucleoside-2',3'-cyclic phosphates unde...

11 Juni 202523min

41: Valuing Genomic Newborn Screening: Australian Public Preferences

41: Valuing Genomic Newborn Screening: Australian Public Preferences

Peters R et al., The American Journal of Human Genetics - This episode reviews a nationwide survey of 2,509 Australian adults using two discrete choice experiments to quantify public preferences and t...

10 Juni 202518min

40: Lysosomal SLC7A11 and acidification

40: Lysosomal SLC7A11 and acidification

Provided PDF (truncated source text) et al., Cell - This episode reviews a study that examines SLC7A11 (7A11) localization to lysosomes and its impact on lysosomal acidification, cystine/cysteine bala...

9 Juni 202517min

39: Scaling whole-genome polygenic scores with VIPRS

39: Scaling whole-genome polygenic scores with VIPRS

Zabad S et al., The American Journal of Human Genetics - This episode covers Zabad et al.'s methods to scale summary-statistics-based polygenic risk score (PRS) inference to millions of variants. The ...

7 Juni 202519min

38: Bat ancestors, recombination, and rapid travel: origins of SARS-CoV and SARS-CoV-2

38: Bat ancestors, recombination, and rapid travel: origins of SARS-CoV and SARS-CoV-2

Pekar JE et al., Cell - Recombination-aware, whole-genome analyses of sarbecoviruses show that genomic fragments very closely related to SARS-CoV and SARS-CoV-2 circulated in horseshoe bats only years...

7 Juni 202520min

37: Prioritizing missense variants with chemoproteomic-detected amino acids

37: Prioritizing missense variants with chemoproteomic-detected amino acids

Palafox MF et al., The American Journal of Human Genetics - This episode explores a multi-omic study showing that mass spectrometry–based chemoproteomic detection of cysteine, lysine, and tyrosine (Cp...

6 Juni 202523min

36: Bi-allelic POPDC2 variants and a recessive cardiac syndrome

36: Bi-allelic POPDC2 variants and a recessive cardiac syndrome

Nicastro M et al., The American Journal of Human Genetics - This episode covers Nicastro et al. (2025), who identify bi-allelic POPDC2 variants in four families causing a recessive cardiac syndrome ma...

6 Juni 202518min

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