Sandra Lapinska

Quantitative trait loci mapping of gene expression and chromatin accessibility in primary fibroblast reveals shared allelic effects between Latin American and European ancestries

The paper maps gene expression and chromatin accessibility QTLs in fibroblasts from European and Latin American ancestries, finding high concordance and shared regulatory mechanisms.

Evaluation of the genome-informed risk assessment (GIRA) approach from eMERGE in an independent health system

This study evaluates the GIRA approach in a health system, finding 30.4% of patients labeled high-risk based on genomic data, with ancestry differences and social deprivation influences.

Advancing Precision Health Discovery in a Genetically Diverse Health System

The paper analyzes genetic and health record data from a diverse population to uncover gene-phenotype associations and assess polygenic score performance across ancestries.

Inclusion bias affects common variant discovery and replication in a health-system linked biobank

This study shows that inclusion biases in biobanks affect genetic analysis results and suggests using inverse probability weighting to improve variant discovery and replication.

Statistical uncertainty explains the poor agreement in polygenic scoring for type 2 diabetes

The paper shows that statistical uncertainty explains disagreement in type 2 diabetes polygenic scores and proposes using uncertainty measures to improve risk prediction.

Genome-wide analysis implicates inner ear development in Meniere's disease

This study identifies genetic loci associated with Meniere's disease and links them to inner ear development and retinoic acid metabolism.

Trans-eQTLs reveal the architecture of human gene regulatory networks

The paper maps cis- and trans-eQTLs in blood samples to infer gene regulatory networks and prioritize trait-relevant pathways.

Trans-eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locus

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

Cell type deconvolution of bulk blood RNA-Seq to reveal biological insights of neuropsychiatric disorders

This study uses bulk RNA-Seq from blood samples to estimate cell type proportions and eQTLs, revealing cell-type specific genetic associations with psychiatric disorders and medication effects.

Large uncertainty in individual PRS estimation impacts PRS-based risk stratification

The paper shows that individual PRS estimates have large uncertainty, impacting risk stratification, and introduces a method to quantify this uncertainty using Bayesian approaches.