Lili A. Milani

The paper develops a multi-task neural network to predict blood metabolite profiles by separating covariate, genetic, and joint effects, finding nonlinear covariate modeling improves prediction.

This paper develops a neural network model, nnCNV, to detect CYP2C19 deletions from genotyping array signals, achieving higher accuracy than existing methods.

This study identifies genetic loci associated with antihypertensive medication switching, implicating neurotensin-NTSR1 signaling in ACE inhibitor-induced cough and CYP3A4*22 in dCCB intolerance.

This study identifies 32 new SNHL risk loci through genome-wide meta-analyses of 531,059 individuals, including age- and sex-specific differences.

The paper establishes a global consortium to discover rare genetic associations by integrating data from multiple biobanks, identifying 514 gene-trait associations, many detectable only through cross-ancestry meta-analysis.

This study performs a large-scale GWAS on 249 metabolic traits in 619,372 individuals, identifying 88,604 associations and using MR to explore causal links between metabolites and diseases.

This paper identifies 58 genome-wide significant loci for major anxiety disorders using a large meta-analysis and highlights GABAergic signaling as a potential mechanism.

The paper uses genome-wide meta-analysis and machine learning to study prescription opioid use in 860,000 individuals, identifying genetic loci and distinguishing between pain-related and dose-intensity traits.

The paper integrates GWAS meta-analysis with human brain cell mapping to identify genetic loci and cell types involved in tinnitus, implicating the amygdala and midbrain.

The paper identifies USP18 as a negative regulator of interferon response at a lupus risk locus through trans-eQTL analysis in lymphoblastoid cell lines.

The paper infers parent-of-origin effects in ~265,000 individuals using a novel method, identifying over 30 novel POEs and confirming known associations, supporting the parental conflict hypothesis.

This study identifies 21 infertility loci and over 400 reproductive hormone loci through GWAS across multiple cohorts, finding limited genetic correlation between reproductive hormones and infertility.

This study uses biobank-linked drug purchase data to investigate genetic factors influencing medication dosing, finding significant polygenic and pharmacogenomic associations with statins, metoprolol, and warfarin.

This study performs a GWAS meta-analysis of psoriasis, identifying 109 susceptibility loci, including 45 new ones, and highlights potential therapeutic targets and disease mechanisms.

StarPhase diplotypes 21 pharmacogenes using long-read sequencing with high accuracy, updating 26.2% of existing diplotypes and highlighting gaps in pharmacogenomic databases.

The paper reviews the Estonian Biobank's role in advancing genomics research and personalized medicine through its comprehensive data and translational focus.

This study identifies shared genetic components between thyroid disorders and reproductive health using GWAS and genetic correlation analysis in 743,088 individuals.

This study identifies two novel genomic loci associated with antidepressant non-response and suggests potential drugs for further validation.

This study identifies six novel genetic loci associated with BMI change over adulthood using UK Biobank health records, finding lower heritability for BMI change compared to baseline BMI.

This study identifies genetic determinants of plasma protein levels in the Estonian population, including common, rare, and copy number variants, and provides fine-mapped credible sets for 151 proteins.

The paper identifies pQTLs for 91 plasma proteins, finds novel associations, and uses MR to uncover causal roles in immune-mediated diseases, suggesting new therapeutic targets.

This paper uses genetic data to investigate the causal relationships between vascular traits like white matter hyperintensity, blood pressure, and stroke with dementia and Alzheimer's disease risk.

OTTERS is a TWAS framework that uses summary-level eQTL reference data to estimate eQTL weights and perform omnibus TWAS, showing improved power and applicability.

This study identifies 43 genomic loci associated with reproductive success in 785,604 individuals, showing ongoing natural selection at the FADS locus.

This study uses whole-exome sequencing to directly call HLA alleles in the UK Biobank, identifying 129 novel associations between HLA alleles and 11 autoimmune diseases.

This study identifies Neandertal DNA's long-range regulatory effects on gene expression in modern humans, showing their influence on immune traits, schizophrenia, and other phenotypes.

This study identifies 114 genome-wide significant rare CNV-disease associations across 30 neurological disorders, revealing 38 novel triplosensitive genes and developing a model to predict dosage sensitivity.

This paper identifies 19 novel genetic loci associated with pelvic organ prolapse through the largest GWAS to date and presents a polygenic risk score with predictive value for POP risk.

This study identifies 81 genetic loci associated with different hernia types using genome-wide association analysis in the UK Biobank.

Exomes of 24,248 schizophrenia cases and 97,322 controls implicate ultra-rare damaging variants in 10 genes, including GRIN2A and GRIA3, with odds ratios of 3 to 50.