GWAS summary statistics

The paper evaluates how using polygenic risk scores (PRS) or monogenic testing (PGT-M) for breast cancer risk can lead to errors in embryo selection due to interactions between genetic variants.

This study examines genetic nurturing effects using polygenic scores in parent-offspring trios and identifies biases when parental phenotypes are included.

The paper introduces the Archipelago method to visualize variant set association test statistics by assigning genomic coordinates to P values, enabling combined visualization of set-level and individual variant associations.

This paper conducts a trans-ancestry GWAS of hot flashes, identifies TACR3 as a key genetic target, and finds genetic overlaps with psychiatric disorders.

The paper identifies rs3769823 as a functional variant near CASP8 influencing its expression in a cell-type specific manner and associated with multiple cancers.

The paper uses polygenic risk scores and Mendelian randomization to show circadian genetic factors contribute to idiopathic hypersomnia.

DISGENET integrates genotype-phenotype data to support precision medicine and drug development through comprehensive, up-to-date associations and tools.

This paper develops a multi-trait polygenic score (mt-PGS) to predict lithium responsiveness in bipolar disorder, finding it improves prediction accuracy compared to single-trait methods.

The paper integrates perturbational screens, eQTL, and GWAS data to identify mediating genes for complex traits, finding 546 significant genes enriched for immune response and cellular signaling.

The paper investigates why the 9p21.3 CAD risk locus fails to replicate in African ancestry cohorts, finding ancestry-specific LD and haplotype diversity explain the lack of association.

The paper applies network-based methods to genome-wide biobank data to discover genetic associations in psoriasis, identifying known genes and novel MRPL family genes.

The paper conducts a genetic analysis of immune biomarkers across pregnancy timepoints, identifying heritable and genome-wide significant associations and highlighting timepoint-specific and pregnancy-unique findings.

This study identifies sex-specific genetic risk factors for Parkinson's disease using GWAS across European populations, finding shared and distinct loci between males and females.

This paper identifies multi-omic pleiotropy factors for peripheral artery disease by analyzing genetic, transcriptomic, and proteomic data across PAD, T2D, and CAD.

This study assesses the association between APOE genetic variants and dementia risk in British South Asians using healthcare records and genotyping data.

This paper introduces MR-CARV, a two-sample Mendelian randomization framework integrating common and rare variants to assess the causal effect of HDL-C on preeclampsia risk, showing improved statistical power and precision.

3D-Manhattan visualizes multiple GWAS results in 3D to compare genetic associations across traits, time points, or conditions.

This study identifies genetic correlations and pleiotropy between neurodevelopmental disorders and hearing problems, suggesting shared biological mechanisms.

CARDBiomedBench evaluates LLM performance in biomedical research using a benchmark focused on neurodegenerative diseases, revealing significant limitations in response quality and safety.

The paper investigates the association between DNAJC13 variants and Parkinson's disease across diverse ancestries but finds no significant association.

The paper identifies rare damaging variants in genes associated with misaligned phenotypes using polygenic scores and enrichment analysis in the UK Biobank.

This study conducts a GWAS and cross-ethnic meta-analysis of schizophrenia phenotypes in Hong Kong Chinese and European populations, identifying genetic variants and building predictive models for clinical outcomes.

This study identifies a shared genetic factor underlying brain age gaps across 30 cohorts, finding 19 SNPs and associations with health traits.

The paper uses Monte Carlo simulations on summary-level allele counts to detect pathway-level variant burden enrichment in neuromuscular disease, identifying potential oligogenic interactions.

This study conducts the first XWAS in an African cohort, identifying X chromosome variants associated with Parkinson's disease susceptibility in males and females.

This study identifies a CRIP3 non-synonymous variant associated with age-related hearing loss and provides genetic, functional, and evolutionary evidence for its role in auditory function.

This study identifies 48 genetic loci and 66 fine-mapped signals associated with mono- and polyneuropathies using GWAS and meta-analysis across 983,477 individuals.

This study reviews sex differences in additive genetic effects related to autism, finding inconclusive evidence but suggesting higher polygenic scores in females without intellectual disability.

This study conducts a GWAS on Pick's disease and identifies two SNPs associated with risk, though not at genome-wide significance, suggesting potential genetic factors beyond MAPT mutations.

FastHer provides a fast and accurate method for estimating local heritability from GWAS summary statistics, achieving GREML-level accuracy with significantly reduced computational time.