Li‐San Wang

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 finds that mosaic chromosomal alterations in blood are associated with increased Alzheimer's disease risk, with variations by ancestry, mCA subtype, APOE ε4 status, and chromosomal location.

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 investigates organ-specific and modality-specific aging clocks using proteomic and imaging data, revealing distinct biological processes and their roles in age-related diseases.

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.

This study examines the association between APOE genotype and cognitive resilience in SuperAgers, finding lower APOE-ε4 and higher APOE-ε2 frequencies in non-Hispanic White SuperAgers compared to controls and Alzheimer's cases.

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

This paper introduces a new framework for CNV association analysis in whole genome sequencing data, identifying additional CNVs linked to Alzheimer's Disease.

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.

The paper maps GWAS variants associated with late-onset Alzheimer's disease to functional effects in microglial cells, identifying RTFDC1 as a novel effector gene at the CASS4 locus.

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.

The paper identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer's Disease using exome sequencing data from 32,558 individuals.

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.

This study identifies genetic variants and pathways associated with cognitive resilience to Alzheimer's disease, finding a novel locus linked to bile acid metabolism and methylation changes.

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

HIPPIE2 identifies physically interacting chromatin regions with high resolution and reproducibility across human cell lines.

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.

INFERNO integrates GWAS data with functional genomics to identify causal noncoding variants and their molecular mechanisms in schizophrenia.