Francis P. Grenn

A TAD-informed aging-brain xQTL atlas of multi-modal and cell-type-resolved regulatory variation

The paper presents an xQTL atlas of regulatory variation in the aging human brain, integrating multiple modalities and cell types across four studies, identifying more variant-molecular-trait associations by including TAD boundaries.

The complete genome of the KOLF2.1J reference iPSC line

The paper generates and characterizes a custom genome assembly for the KOLF2.1J iPSC line to improve genomic analysis accuracy compared to standard references.

The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson's disease data

The paper describes a virtual hackathon event that brought together early career scientists to develop tools for Parkinson's disease research using open science principles.

The Foundational data initiative for Parkinsons disease (FOUNDIN-PD): enabling efficient translation from genetic maps to mechanism

The paper presents a multi-layered molecular dataset from iPSC-derived dopaminergic neurons to model Parkinson's disease genetic risk and provides a data browser for accessing these resources.

Classification of GBA1 variants in Parkinson disease; the GBA1-PD browser

The paper creates a database and browser for GBA1 variants associated with Parkinson's Disease, classifying them into severe, mild, and risk categories.

Large-scale Rare Variant Burden Testing in Parkinson's Disease Identifies Novel Associations with Genes Involved in Neuro-inflammation

Analysis of Y Chromosome Haplogroups in Parkinson's Disease

This study analyzes Y chromosome haplogroups and gene expression in Parkinson's disease but finds no strong associations, suggesting male prevalence may have other causes.

Genome-wide analysis of Structural Variants in Parkinson's Disease using Short-Read Sequencing data

This study identifies 3,154 high-confidence structural variants in Parkinson's disease using short-read sequencing and validates some with long-read data, highlighting limitations of short-read methods.

Investigation of Autosomal Genetic Sex Differences in Parkinsons disease

This study investigates sex-specific genetic factors in Parkinson's disease using GWAS but finds no significant genetic differences between male and female cases.

Assessment of ANG variants in Parkinson's disease

This study examines the genetic association between ANG variants and Parkinson's disease using large-scale genotype and whole genome sequencing data, finding no significant association.

The Parkinson's Disease DNA Variant Browser

The paper introduces a web browser for Parkinson's disease genomic data, aggregating results from 102,127 participants to aid in identifying risk genes and variants.

The Parkinson's Disease GWAS Locus Browser

The paper presents a GWAS locus browser for Parkinson's disease that helps prioritize genes associated with risk variants from multiple GWAS studies.

Comprehensive assessment of PINK1 variants in Parkinson's disease

This study evaluates the role of PINK1 variants in Parkinson's disease risk using large datasets and finds no evidence supporting heterozygous PINK1 mutations as a risk factor.

Genetic modifiers of risk and age at onset in GBA associated Parkinson disease and Lewy body dementia

The paper identifies genetic modifiers of risk and age at onset in GBA-associated Parkinson disease and Lewy body dementia using large case-control datasets and genome-wide association studies.