189 papers
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.
The paper introduces XMR, a novel cross-population Mendelian randomization method that leverages global biobank summary statistics to enhance statistical power and causal inference accuracy in underrepresented populations, thereby addressing genetic diversity gaps and promoting global health equity.
This study analyzes eight years of data from nearly 10,000 adult patient encounters to demonstrate that genetic testing in adults offers a high diagnostic yield, particularly with whole-exome sequencing, while revealing significant variations in test utilization and outcomes based on patient age, referral indication, and operational factors.
This study reveals that Epstein-Barr virus (EBV) infection drives multiple sclerosis (MS) pathogenesis by enhancing the activity of the viral transcription factor EBNA2, which alters gene expression, chromatin accessibility, and transcription factor binding at MS genetic risk loci in a manner dependent on the host's MS genetic background.
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.
By integrating statistical fine-mapping with functional assays, this study identifies eight multi-cancer functional variants and a key intronic VNTR within the 5p15.33 locus that mediate antagonistic pleiotropy in cancer susceptibility through differential regulation of TERT and CLPTM1L via Hippo-pathway transcription factors.
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 study demonstrates that Ultra-Low Input HiFi (ULI-HiFi) sequencing overcomes high DNA input limitations to achieve superior whole-genome variant detection compared to dMDA methods, enabling the identification of clinically significant tandem repeat expansions in difficult-to-map regions of ultra-low input patient samples.
This paper introduces Gene Portals, a modular framework that consolidates scattered clinical, functional, structural, and population data into unified, gene-centered resources to enable automated, mechanism-aware variant classification and standardized interpretation for rare Mendelian disorders.
This study develops machine learning models that leverage large-scale real-world cancer genomic profiles to accurately predict the pathogenicity of BRCA1 and BRCA2 variants, successfully reclassifying nearly half of the previously uncertain variants by integrating tumor-derived features such as homologous recombination deficiency signatures and co-mutated genes.
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 study leverages genome-wide association studies and multi-omics data from four psychiatric disorders to prioritize and repurpose drug targets and compounds, revealing genetic support for existing treatments and identifying novel opportunities such as cholinergic drugs for ADHD and estrogen modulators for depression.
FA-NIVA is a reproducible, Nextflow-based automated workflow that leverages Nanopore long-read sequencing to comprehensively detect and phase both single nucleotide and structural variants in Fanconi anemia genes, overcoming the limitations of current short-read methods.
The paper introduces MuAt2, a Transformer-based dual-task model that leverages pre-trained whole-genome somatic variant data to accurately classify pan-cancer tumor types and subtypes while improving prognostic risk stratification and identifying tissue origins for metastatic or unknown primary cancers.
This study demonstrates that a novel, label-free, multi-ancestry polygenic risk score framework (8 Billion) can identify individuals with a coronary artery calcium score of zero who still harbor a significantly elevated risk of future coronary artery disease, thereby refining preventive strategies beyond imaging alone.
This study identifies a previously unrecognized mutagenic pathway called clustered monoallelic mosaicism (cMoMa), characterized by two closely spaced mosaic variants on the same allele that never co-occur on a single DNA molecule, likely arising from asymmetric repair of a single mutational event in early embryonic cells.
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 reveals that while the clinical comorbidity between hip osteoarthritis and Alzheimer's disease is driven by a depression-mediated "phenotypic illusion," the underlying genetic liability for hip osteoarthritis actually confers robust neurovascular protection against Alzheimer's disease through astrocyte- and pericyte-mediated mechanisms, highlighting a critical evolutionary trade-off within the bone-brain axis.