Rachel L. Kember

The paper uses polygenic scores to associate psychiatric disorder risk with laboratory tests, identifying physiological biomarkers across different ancestries.

This study evaluates cancer-specific polygenic risk scores (PRS) across diverse ancestries and finds they predict corresponding cancers with varying effectiveness and limited pleiotropy.

This study identifies sex-specific genetic loci and correlations for alcohol use behaviors and their comorbidities using genome-wide association studies.

This study investigates genetic predictors of inpatient opioid exposure after knee or hip surgery using EHR and genotype data from 27,896 individuals across three ancestries, finding no genome-wide significant loci.

This paper identifies cell-type-specific genetic variants associated with chronic pain using GWAS and scRNA-seq data from brain and dorsal root ganglia tissues.

This study identifies 343 genetic loci for chronic pain in 1.2 million individuals, revealing pleiotropy with psychiatric disorders and brain structures.

The paper integrates HiTOP and RDoC frameworks to identify shared and distinct biological mechanisms of externalizing and internalizing psychopathology using multi-omics approaches.

The paper uses genomic structural equation modeling to identify the genetic architecture of externalizing and internalizing psychopathology, finding a moderate genetic correlation and shared causal variants.

This study identifies divergent gene expression in AUD and OUD but finds shared biological pathways in the dorsolateral prefrontal cortex, suggesting potential therapeutic targets.

The paper analyzes single-nucleus RNA sequencing data from rat nucleus accumbens medium spiny neurons to identify transcriptomic subtypes and their potential roles in substance use disorders.

The paper uses polygenic scores to analyze pleiotropy between psychiatric, medical, and substance use disorders in a deeply phenotyped sample, finding extensive genetic overlap with substance use phenotypes.

This paper identifies shared and unique chromatin accessibility and 3D interactions of SUD loci, implicating non-neural cell types like pancreatic β-cells and showing a causal link between T2D and AUD.

Population-stratified GWAS of 2,068 traits in 635,969 Million Veteran Program participants, 29% genetically non-European, yields 98,485 associations and 57,601 fine-mapped signals with largely shared cross-population architecture.

This paper combines transdiagnostic and disorder-level GWAS to enhance genetic risk profiles for psychiatric disorders in multi-ancestry samples, identifying novel SNPs and shared genetic variance.

This study identifies genetic loci associated with alcohol use disorder and consumption, finding distinct genetic architectures and variants with direct effects on AUD.

This study uses multi-trait analysis to identify novel genetic loci for smoking behaviors by leveraging alcohol use disorder GWAS data from the Million Veteran Program.

This study performs a multi-ancestry meta-analysis of tobacco use disorder using electronic health records, identifying 88 risk loci and 461 potential risk genes, and linking TUD to various health outcomes.

The paper uses polygenic risk scores and phenome-wide association studies to examine pleiotropy in substance use disorders using a deeply phenotyped sample.

This paper uses PheWAS to investigate the phenotypic effects of GABRA2 variant rs279858, finding associations with anxiety-related and behavioral traits linked to alcohol use disorders.

This study identifies 135 genomic loci associated with venous thromboembolism risk through cross-ancestry GWAS and provides insights into biological pathways and potential therapeutic targets.

This study shows polygenic risk scores for substance use disorders predict substance use milestones and progression, with differences by sex and population group.

This study performs a cross-ancestry meta-analysis of opioid use disorder, identifying 14 loci, including 12 novel ones, and finding significant genetic correlations with psychiatric and neurological traits.

The paper integrates brain proteomic data with GWAS findings to identify novel brain proteins associated with substance use traits and their potential as therapeutic targets.

This paper applies MTAG to GWAS of substance use traits, identifying novel genetic loci and showing improved polygenic risk scores for four disorders.

This study conducts a trans-ancestry GWAS using chronic ALT elevation as a proxy for NAFLD, identifies 77 significant loci, and validates 17 SNPs with histology and imaging data, revealing genetic links to metabolic and inflammatory traits.

This study evaluates polygenic risk scores (PRS) for cancer prediction in a racially diverse biobank, finding moderate improvements in discriminatory accuracy for European ancestry but limited gains for African ancestry.

The paper calculates polygenic risk scores for substance use disorders and finds associations with related phenotypes in electronic health records.

This study identifies genetic variants shared between schizophrenia and alcohol use disorder, finding both convergent and divergent effects and evidence of brain tissue expression.

This paper introduces an algorithm called thread to reconstruct ancestral haplotypes in endogamous populations using pedigree and genotype data, finding it can reconstruct 79% of haplotypes for 224 ancestral individuals per chromosome.