147 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 reveals that truncating variants in ASXL3, previously assumed to be loss-of-function, actually cause Bainbridge-Ropers syndrome through a gain-of-function mechanism involving aberrant protein accumulation, and demonstrates that antisense oligonucleotides can effectively rescue the resulting transcriptional dysregulation.
This study presents a comprehensive atlas of disease-context-specific genetic effects on the blood transcriptome for five major glomerular diseases, generated by integrating whole-genome and bulk blood transcriptome sequencing from 1,822 CureGN participants to identify thousands of novel expression, splicing, and editing QTLs, many of which are unique to specific conditions or modified by clinical factors, thereby providing a powerful new resource for integrative gene discovery in primary glomerulonephropathies.
This retrospective study of nearly 5,000 critically ill children reveals that over one-third receive medications with established pharmacogenomic guidelines, suggesting a significant opportunity to improve personalized care through exome sequencing, which successfully identified actionable metabolizer phenotypes in 62% of sequenced patients.
By applying Case-Case GWAS to over 100,000 cases, this study identified 19 genome-wide significant loci with divergent genetic effects that differentiate schizophrenia from bipolar disorder, revealing distinct neurodevelopmental pathways and biological mechanisms despite their substantial shared genetic liability.
This study leverages a comprehensive single-cell atlas of over 85,000 renal cell carcinoma profiles to refine subtype classification, deconstruct canonical pathways into 59 functional gene programs, and identify specific transcriptional signatures of metastatic progression and poor clinical outcomes.
This study demonstrates that European-derived coronary artery disease polygenic scores are inconsistently calibrated and systematically over-flag high genetic risk in Vietnamese and Southeast Asian populations when European thresholds are applied, highlighting the critical need for local validation and recalibration before clinical use.
This study demonstrates that the clinical evidence points allocatable for functional assay validation vary significantly based on the composition and stringency of the 'truthset' used, highlighting that augmenting ClinVar-based sets with systematically generated 'proxy-clinical' benign missense variants can substantially improve evidence strength and underscoring the urgent need for standardized guidance to ensure consistency in clinical variant classification.
The CanVIG-UK group established nine guiding principles and seven best-practice recommendations for constructing variant "truthsets" to clinically validate large-scale functional assays, specifically addressing the need for consistent, context-appropriate standards to resolve variants of uncertain significance in cancer susceptibility genes.
This study introduces K-PanRef, the first graph-based Korean pangenome reference constructed from 14 healthy individuals, which significantly improves the representation of Korean genetic diversity and enables the discovery of population-specific structural variants associated with early-onset myocardial infarction.
This retrospective analysis of 840 Gambian SCD patients reveals low rates of acute crises and chronic complications despite the absence of hydroxyurea, while confirming that penicillin prophylaxis significantly reduces infection and crisis rates and folic acid supplementation is associated with higher hemoglobin levels.