181 papers
Genetic and genomic medicine explores how our DNA shapes health, disease risk, and responses to treatment. This rapidly evolving field moves beyond simple family trees to examine the complex molecular instructions that guide every cell in the human body. By decoding these biological blueprints, researchers aim to unlock personalized therapies that target the root causes of illness rather than just treating symptoms.
On Gist.Science, we bring the latest discoveries directly from medRxiv, the leading preprint server for health sciences. We process every new submission in this category as it arrives, transforming dense academic findings into both detailed technical breakdowns and clear, plain-language summaries. This ensures that groundbreaking research is accessible to clinicians, scientists, and curious readers alike without the usual barriers of jargon.
Below are the most recent papers in genetic and genomic medicine, organized for your review.
This study found that while both AI predictions and explainable AI (XAI) saliency maps improved diagnostic accuracy when the AI was correct, medical geneticists relied more heavily on the raw prediction probabilities than on XAI explanations, which were viewed less favorably and failed to significantly enhance decision-making integration.
This multicenter study of 30 patients provides the first radiological description of the natural history of PIK3CA-related overgrowth spectrum (PROS), demonstrating that tissue malformations typically exhibit sustained progression and volume increase into adulthood.
The paper introduces SBayesCO, a Bayesian framework that jointly models GWAS and molecular QTL effect sizes to significantly improve polygenic prediction accuracy and SNP prioritization for complex traits compared to existing methods.
Human genetic evidence demonstrates that inhibiting hepatic angiotensinogen synthesis lowers blood pressure and significantly reduces the risk of coronary artery disease, stroke, and heart failure without raising major safety concerns, thereby supporting the potential of angiotensinogen inhibitors as effective cardiovascular therapies.
PanelAppRex is an openly available, harmonized resource and interactive search tool that aggregates over 58,000 curated gene-disease panel associations to facilitate sophisticated, natural language-based queries and seamless integration into bioinformatic pipelines for genomic diagnostics.
This paper introduces the first mass spectrometry sterolomic library, utilizing Girard P derivatization and electrospray ionization, to facilitate the diagnosis and monitoring of rare inherited cholesterol-related disorders that currently lack specific diagnostic tests.
This study demonstrates that incorporating plasma protein quantitative trait loci (pQTL) evidence significantly enhances the clinical success rate of therapeutic targets, increasing the likelihood of advancing from Phase I to launch by 4.7-fold compared to the 2.6-fold improvement seen with human genetic evidence alone.
In a Mexican population with type 2 diabetes, the FTO rs9939609-A variant is significantly associated with poorer glycemic control despite pharmacologic treatment.
This retrospective genomic epidemiology study utilized whole-genome sequencing to identify a multidrug-resistant *Klebsiella pneumoniae* ST39 strain as the cause of a fatal neonatal sepsis outbreak in a rural Gambian hospital, pinpointing contaminated multi-use intravenous fluids as the source and highlighting the global spread and high-risk nature of the SL39 sublineage.
This study presents the largest genome-wide association study of Parkinson's disease in African and African admixed populations to date, identifying both trans-ancestry risk loci and novel ancestry-specific variants, particularly in LRRK2, which validates current therapeutic targets and highlights the critical need for inclusive genetic research to advance precision medicine.