Base by Base

️ Episode 4: Shaping the Heart: How CXCL12 Drives Coronary Artery Anatomy In this episode of Base by Base, we explore a groundbreaking 2025 study published in Cell that reveals how the gene CXCL12 contributes to natural variation in coronary artery anatomy across diverse human populations. The study identifies CXCL12 as a key regulator of coronary artery dominance — a developmental trait that determines whether the right, left, or both coronary arteries

🎙️ Episode 3: Heuristics in Splicing: Rethinking Variant Impact from the Genome Up🧬 In this episode of Base by Base, we discuss a 2025 study published in The American Journal of Human Genetics that introduces a comprehensive, data-driven framework to enhance the assessment of splice-altering variants (SAVs). These variants, often overlooked in variant classification workflows, are now being reevaluated with a new lens grounded in splicing biology and empirical data.The study led by Sullivan and

️ Episode 3: Heuristics in Splicing: Rethinking Variant Impact from the Genome Up In this episode of Base by Base, we discuss a 2025 study published in The American Journal of Human Genetics that introduces a comprehensive, data-driven framework to enhance the assessment of splice-altering variants (SAVs). These variants, often overlooked in variant classification workflows, are now being reevaluated with a new lens grounded in splicing biology and

In this episode of Base by Base, we delve into a pivotal study examining how different blood collection tube additives—EDTA, citrate, heparin, and serum—affect the integrity of cell-free DNA (cfDNA). The research highlights that EDTA-plasma offers superior preservation of cfDNA due to its effective inhibition of DNase activity, resulting in minimal degradation. Conversely, heparin-plasma and serum samples exhibit higher DNase activity, leading to

In this episode of Base by Base, we delve into a pivotal study examining how different blood collection tube additives—EDTA, citrate, heparin, and serum—affect the integrity of cell-free DNA (cfDNA). The research highlights that EDTA-plasma offers superior preservation of cfDNA due to its effective inhibition of DNase activity, resulting in minimal degradation. Conversely, heparin-plasma and serum samples exhibit higher DNase activity, leading to significant cfDNA degradation, which can compromise

In this episode of Base by Base, we explore a recent study published in The American Journal of Human Genetics that investigates the integration of structural biology into the ACMG/AMP framework for classifying BRCA1 missense variants. The research assesses how incorporating structure-based evidence—such as relative solvent accessibility (RSA), folding stability (ΔΔG), and AlphaMissense pathogenicity scores—can refine the application of computational evidence codes PP3 and BP4. By utilizing tools

In this episode of Base by Base, we explore a recent study published in The American Journal of Human Genetics that investigates the integration of structural biology into the ACMG/AMP framework for classifying BRCA1 missense variants. The research assesses how incorporating structure-based evidence—such as relative solvent accessibility (RSA), folding stability (ΔΔG), and AlphaMissense pathogenicity scores—can refine the application of computational