189 papers
This study identifies rare recessive variants in the RYR3 gene as a novel cause of recurrent fever-triggered rhabdomyolysis, demonstrating that impaired RyR3-mediated calcium signaling disrupts autophagy and mitochondrial homeostasis, thereby compromising skeletal muscle resilience to metabolic stress.
This study addresses the fragmented landscape of polygenic risk score (PRS) benchmarking by constructing a comprehensive, literature-derived database from 2009 to 2025 and applying a spectral ranking framework to systematically evaluate and rank 14 PRS methods, thereby providing a dynamic reference for guiding future genetic risk prediction applications.
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.
This genome-wide meta-analysis of over 480,000 individuals identifies 16 novel gene loci that interact with short or long sleep duration to influence glycemic traits, revealing distinct biological mechanisms and potential therapeutic targets for type 2 diabetes prevention.
This study demonstrates that in admixed Latin American populations, polygenic risk scores for Parkinson's disease derived from large European GWAS currently outperform those from smaller ancestry-matched datasets, though methods incorporating functional annotations like SBayesRC offer the best predictive performance, highlighting the urgent need for larger, diverse genetic studies to ensure equitable clinical translation.
This genome-wide association study identified specific genetic variants (FOXE1, FOXA2, ADAM32, and CAPZB) that significantly influence the risk of amiodarone-induced thyroid dysfunction, demonstrating that genotype-guided screening can improve risk prediction and enable personalized pre-treatment assessment.
By employing a lentivirus-based massively parallel reporter assay to screen over 5,000 credible causal variants, this study identified 709 functional variants across 140 risk regions and pinpointed rs7153397 as a key variant influencing CCDC88C expression, thereby establishing CCDC88C as a risk gene for ER-positive breast cancer.
This study demonstrates that polygenic scores for ADHD and intelligence significantly predict specific and broad cognitive and behavioral dimensions, including externalizing behaviors and general mental health factors, in a transdiagnostic sample of children with attention and learning difficulties, with some associations being influenced by socio-economic status.
This study presents the largest curated compendium of 413 unique FOXL2 variants identified in 864 patients, systematically reclassifying them according to ACMG/AMP guidelines to enhance the diagnosis and genetic counseling for Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome (BPES).
This study leverages 681 patient-years of real-world clinical data to reconstruct the longitudinal disease history of 100 individuals with SCN1A-related disorders, providing a granular, standardized analysis of seizure patterns, neurodevelopmental comorbidities, and evolving treatment landscapes that refines existing natural history knowledge for precision medicine.
This study presents the largest cross-ancestry genome-wide meta-analysis of vascular dementia, identifying 37 significant loci, revealing a novel genetic link to lung function, and uncovering shared risk factors with Alzheimer's disease through multi-omics integration.
This study demonstrates that optical genome mapping can identify rare, potentially causative structural variants in 25% of male infertility patients that are missed by traditional diagnostic methods, offering a promising new avenue for resolving the ~70% of cases currently lacking a genetic diagnosis.
This study presents a language model pipeline that transforms unstructured ClinVar and ClinGen variant summaries into structured evidence data, successfully identifying evidence gaps in Variants of Uncertain Significance (VUS) and demonstrating that approximately 17% of these variants can be reclassified as likely benign or pathogenic based on aggregated external evidence.
This study demonstrates that a multi-trait polygenic probability risk score (PPRS) framework, which integrates genetic data from glaucoma endophenotypes like intraocular pressure and optic nerve structure, significantly improves primary open-angle glaucoma prediction accuracy across European and Latino ancestries while revealing distinct trait-specific risk drivers for each population.
This study identifies WAPL as a novel cohesinopathy gene causing a distinct developmental disorder and establishes it as the primary driver gene within the 10q22.3q23.2 genomic deletion syndrome, while demonstrating that PDS5A and PDS5B variants do not yield specific phenotypes and highlighting a critical dosage sensitivity threshold for WAPL function.
This study establishes that de novo variants in the LDB1 gene cause distinct neurodevelopmental phenotypes through two separate pathomechanisms—loss-of-function homodimerization disruption for N-terminal variants and dominant-negative LHX2 interaction impairment for C-terminal variants, the latter of which is uniquely associated with ventriculomegaly.
PHARMWATCH is a multilayer pharmacogenomics safety system that enhances the accuracy of star allele interpretation and drug dosage recommendations by integrating de novo germline variant screening and contextual variant analysis to address the limitations of traditional benchmark SNP-based approaches.
Using whole-genome sequencing data from 124,920 diverse participants in the All of Us Research Program, this sex-stratified genome-wide association study identified five genes with significant sex-heterogeneous effects on blood lipid levels, highlighting the importance of sex-specific genetic contributions to cardiovascular risk.
This Mendelian randomization study provides genetic evidence that psoriasis is causally associated with an increased risk of inflammatory bowel disease and its subtypes, while type 2 diabetes shows a modest inverse association specifically with ulcerative colitis.
This paper demonstrates that the poor agreement among polygenic scores for type 2 diabetes is fully explained by statistical uncertainty, and proposes that incorporating individual-level uncertainty estimates improves risk prediction accuracy and the identification of high-risk individuals.