Otto Valladares

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 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 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.

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.

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.

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.

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.

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

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.

This study performs a large GWAS of Alzheimer's disease, identifies four new risk loci, and highlights pathways involving immunity, lipid metabolism, and APP/Aβ processing.