Anita Pandit

The Phenotype-Genotype Reference Map: Improving biobank data science through replication.

The paper introduces a phenotype-genotype reference map for replicating GWAS results in biobank data and demonstrates its utility in detecting data corruption and assessing reproducibility.

The Michigan Genomics Initiative: a biobank linking genotypes and electronic clinical records in Michigan Medicine patients

The Michigan Genomics Initiative links genotypes with electronic clinical records in Michigan Medicine patients, showing higher disease prevalence and validating GWAS findings.

Global biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts

This study evaluates polygenic risk score methods across diverse biobanks and ancestries, finding that European reference panels often yield better performance, while PRS-CS outperforms P+T for high-heritability traits.

Implicating genes, pleiotropy and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

This study identifies 118 candidate causal genes and 21 novel lipid loci on the X chromosome through a multi-ancestry meta-analysis of blood lipid levels, revealing sex-biased effects and pleiotropy with cardiovascular and hormonal traits.

Meta-analysis fine-mapping is often miscalibrated at single-variant resolution

This paper shows that meta-analysis fine-mapping is often miscalibrated due to cohort heterogeneity and introduces a QC method to identify suspicious loci.

Global Biobank Meta-analysis Initiative: powering genetic discovery across human diseases

Meta-analysis of harmonized GWAS from up to 18 biobanks (six ancestry groups) across 14 endpoints replicated 320 known loci and identified 188 apparently novel loci.

A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids

This paper integrates GWAS data with functional genomic datasets to identify regulatory mechanisms and causal genes underlying lipid-related traits.

Multi-ancestry meta-analysis identifies 2 novel loci associated with ischemic stroke and reveals heterogeneity of effects between sexes and ancestries

This paper identifies two novel genetic loci associated with ischemic stroke and finds sex and ancestry differences in their effects.

Genome-wide analysis of 944,133 individuals provides insights into the etiology of hemorrhoidal disease

This study performs a genome-wide association analysis of hemorrhoidal disease in 944,133 individuals, identifying 102 risk loci and linking them to vascular and tissue development pathways.

Nightmares share strong genetic risk with sleep and psychiatric disorders

This study identifies genetic variants associated with nightmares and finds strong genetic links between nightmares and psychiatric and sleep traits.

Loss-of-function genomic variants with impact on liver-related blood traits highlight potential therapeutic targets for cardiovascular disease

The paper identifies loss-of-function variants affecting liver-related blood traits that reduce CVD risk without increasing metabolic disease risk, highlighting potential therapeutic targets.

Genome-wide association study of delay discounting in 23,217 adult research participants of European ancestry

This study identifies a genetic variant associated with delay discounting in European ancestry adults and links it to multiple traits and disorders.

Proper Conditional Analysis in the Presence of Missing Data Identified Novel Independently Associated Low Frequency Variants in Nicotine Dependence Genes

The paper develops a method to handle missing data in genetic meta-analysis, identifying novel low-frequency variants in nicotine dependence genes with improved accuracy.

Association Analysis and Meta-Analysis of Multi-allelic Variants for Large Scale Sequence Data

The paper develops methods to analyze multi-allelic variants in large sequence datasets, showing improved power and unbiased estimates in association tests.