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)

3: Data-driven heuristics for splice-altering variants

Sullivan P et al., The American Journal of Human Genetics - A concise walkthrough of data-driven heuristics and a splicing checklist derived from large-scale exon, branchpoint, and experimentally vali...

16 Apr 202522min

2: Tube additives and cfDNA integrity: why EDTA still leads

Barra G et al., LabMed (2025) 2, 4 - A comparative study of blood collection tubes (EDTA, citrate, heparin, serum) from 15 healthy volunteers showing how anticoagulants affect baseline cell-free DNA, ...

16 Apr 202516min

1: Structure-Informed Computational Evidence Sharpens BRCA1 Missense Classification

Ramadane-Morchadi L et al., The American Journal of Human Genetics - This episode reviews a study that evaluates how structure-based computational scores (AlphaMissense, FoldX DDG using PDB or AlphaFo...

15 Apr 202520min