Yuk Yee Leung

The paper systematically adjudicates genetic evidence for Alzheimer's disease and related dementias, identifying 111 high-confidence loci through a tiered framework applied to large-scale genome-wide studies.

This study uses long-read sequencing to analyze haplotypes and CAA interruptions in ATXN2 CAG repeats, finding ethnicity-specific and ALS-specific associations.

This study evaluates two sequence-to-function models for predicting regulatory variant effects across ancestries using blood eQTL data, finding better performance for high-confidence variants in African American populations.

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 paper constructs a large-scale LD and genotype imputation reference panel using whole-genome sequencing data from 2,680 Indian participants, improving imputation accuracy and polygenic risk score performance.

The paper identifies EGFR as a potential therapeutic target in Alzheimer's disease by linking a risk variant to increased EGFR expression in brain cell types through genomic analysis and CRISPRi validation.

The paper identifies AD-associated genes in South Asians using whole-genome sequence data and variant analysis, finding associations for APOE, PICALM, and TSPOAP1 with cognitive function.

The paper provides a whole-genome sequencing dataset of 36,361 ADSP participants, including variant annotations, phenotypes, and a linkage disequilibrium panel for Alzheimer's Disease research.

CHARMER detects and harmonizes high-confidence chromatin interactions across tissues and Hi-C protocols, providing statistically significant, queryable data for downstream analysis.

BTS identifies causal variants and their functional contexts using GWAS data and functional genomic annotations, showing improved efficiency and biological insights.

The paper investigates the association of common and rare variants with Alzheimer's Disease in 13,371 diverse individuals using whole-genome sequencing, identifying significant genetic loci and population-specific associations.

NIAGADS provides a national data repository for Alzheimer's Disease and related dementia genetics and genomics research, hosting genome and exome sequence data from over 209,000 samples.

This study identifies six genetic loci associated with progressive supranuclear palsy, including a novel locus, and links them to oligodendrocytic dysfunction and C4A expression.

This study uses whole-genome sequencing to identify new genetic loci and structural variants associated with progressive supranuclear palsy, including novel signals in APOE and H1/H2 haplotype region variants.

hipFG harmonizes and integrates diverse functional genomics data into standardized, searchable datasets for analysis workflows.

The paper introduces GenomicsDB, a public knowledgebase for Alzheimer's disease genetic datasets and annotations, enabling data sharing and discovery through harmonized GWAS summary statistics and functional annotations.

The paper identifies structural variations in whole-genome sequencing data from 16,905 ADSP subjects and finds associations with Alzheimer's disease and related endophenotypes.

This study identifies novel Alzheimer's disease risk loci by analyzing multi-ancestry GWAS data from diverse populations, highlighting the importance of including underrepresented groups in genetic research.

This paper presents a strategy to jointly analyze 20,504 whole-exome sequencing samples from nine studies, generating high-quality variant calls and addressing batch effects from different capture kits.

The paper evaluates deletion calling accuracy using two pipelines on ADSP whole genome family data, finding Scalpel better for small deletions and Parliament for larger ones, with 78.1% of predicted deletions validated by Sanger sequencing.

POKEMON improves statistical power for detecting associations between rare missense variants and phenotypes by analyzing their spatial distribution on protein structures.

The paper introduces ADVP, a catalog of Alzheimer's disease genetic associations, integrating data from over 200 GWAS publications to provide harmonized and searchable genetic findings.

FILER provides a large-scale, harmonized functional genomics data catalog with streamlined access to over 50,000 datasets and efficient querying capabilities.

SparkINFERNO efficiently identifies causal non-coding genetic variants and their molecular mechanisms using GWAS data and functional genomics datasets.

The paper identifies enhancer dysregulation and target genes for noncoding Alzheimer's disease-associated variants using GWAS and eQTL data.

VCPA is a genomic variant calling pipeline and data management tool for Alzheimer’s Disease Sequencing Project, providing variant calling and job tracking for WGS/WES data on Amazon cloud.