Introduction

NIAGADS Open Access: An Overview

The National Institute on Aging Genetics of Alzheimer's Disease Data Storage Site - NIAGADS - stores and distributes genetics and genomics data from studies on Alzheimer's disease (AD), related dementias (ADRD), and aging to qualified researchers globally.

NIAGADS Open Access (NIAGADS-OA) is a collection of files, curated annotations, and knowledgebases made available to the public with no data access restrictions.

NIAGADS Open Access: API

The NIAGADS Open Access Application Programming Interface (NIAGADS-OA API) provides programmatic access to Open Access data and annotations hosted at NIAGADS. It also makes NIAGADS knowledge base functionality available for integration in analysis pipelines and web-front end toolkits.

This includes searching for, downloading, and interactively exploring data, metadata, and annotations to facilitate both fine-mapping and investigations at chromosome- or genome-wide scales.

NIAGADS Open Access: Knowledgebases

GenomicsDB: Alzheimer's Genomics Database

The NIAGADS Alzheimer's GenomicsDB (GenomicsDB) is an interactive knowledge base for AD genetics. It provides a platform for data sharing, discovery, and exploration, including a custom genome-browser.

NIAGADS-OA API GenomicsDB endpoints allow users to discover, mine and browse annotated AD/ADRD GWAS summary statistics datasets and Alzheimer's Disease Sequencing Project (ADSP) variants. Queries against the GenomicsDB can also compile these data in the context of functionally annotated gene, variants, and genomic region records.

GenomicsDB endpoints retrieve annotations for genes, variants, or regions (single and in bulk) using IDs, shared features, or association significance—supporting AI-data-driven analyses to uncover risk factors, prioritize loci, and accelerate Alzheimer’s research.

FILER: Functional Genomics repository

The NIAGADS FunctIonaL gEnomics Repository (FILER) is a comprehensive, harmonized, searchable human functional genomics data collection compliled across >20 data sources.

NIAGADS-OA API FILER endpoints allow users to simultaneous search across >79k standardized functional genomics data tracks complied from well known functional genomics repositories such as ENCODE, RoadMap, GTEx, and more. Use metadata searches to find tracks relevant to your study questions and range searches to do bulk retrieval across one or more tracks.

FILER endpoints can be used to quickly assess the functional impact of a potentially causal variant or genomic locus or integrated into analysis pipelines to do robust fine mapping as the overhead of harmonizing across data sources is already done.

ADVP: Alzheimer's Disease Variant Portal

The NIAGADS Alzheimer's Disease Variant Portal (ADVP) is a catalog of high-quality and suggestive genetic association findings curated from the literature.

NIAGADS-OA API ADVP endpoints allow users to search for reported gene- and variant-risk associations by AD endophenotypes and neuropathologies across >80 cohorts and 8 populations.

As a curated collection of high quality, pulbished genetic associations, queries against ADVP endpoints can be used to validate experimental or analytical predictions of genetic association.