Research Resources

mitoAnalyzer is a software package that provides a general approach for the analysis of mitochondrial DNA (mtDNA) in next-generation sequencing studies, using whole-genome sequencing data. It has two components:

• mitoCaller -- an algorithm designed specifically to identify mtDNA variants (i.e., homoplasmies and heteroplasmies)
• mitoCaller incorporates sequencing error rates at each base in a likelihood calculation and allows allele fractions at a variant site to differ among individuals. It relies on a genotype likelihood calculation, described below: 
• Genotype Likelihood Calculation:

• mitoCalc and fastMitoCalc -- programs to estimate mtDNA copy number in a cell directly from sequencing data
• mitoCalc and fastMitoCalc estimate mtDNA copy number based on the observed ratios of sequence coverages between mtDNA and autosomal DNA.
• The most recent update, fastMitoCalc is a program that can estimate mtDNA copy number highly accurately but is more than 100 times faster than mitoCalc.
• fastMitoCalc can rapidly analyze hundreds of thousands of genomes, thereby facilitating association studies of mtDNA copy number with quantitative traits or nuclear variants.

The Multicenter Osteoarthritis Study (MOST) is a longitudinal, prospective, observational study of knee osteoarthritis (OA) in older Americans with OA disease or at increased risk of developing it. The study is comprised of two clinical centers, a data coordinating center, and an analysis center.

The overall aims of MOST are to identify novel and modifiable biomechanical factors (including physical activity-related factors), bone and joint structural factors (including those assessed by MRI of the knee), and nutritional factors that affect the occurrence and progression of OA-related knee symptoms and radiographic knee OA. Additionally, MOST investigators aim to determine whether risk factors for new disease differ from those for OA progression. The MOST cohort has been followed through 84 months with three investigative themes: mechanical risk factors, causes of knee symptoms and pain, and the long term disease trajectory of knee OA.

Funded by NIA, the National Alzheimer's Coordinating Center (NACC) has developed and maintains a large relational database of standardized clinical and neuropathological research data. NACC provides a valuable resource for both exploratory and explanatory Alzheimer's disease research. NACC data are freely available to all researchers.

Sponsored by NIA, NACDA operates under the auspices of the ICPSR and is responsible for archiving data sets concerned with the process of aging, health-related subjects, and the attitudes and behavior of the aged population. NACDA publishes an annual data collections catalog entitled Data Collections From the National Archive of Computerized Data on Aging.

The National Health and Aging Trends Study (NHATS) is a new resource for the scientific study of functioning in later life. The NHATS is being conducted by the Johns Hopkins University Bloomberg School of Public Health, with data collection by Westat, and support from the NIA. In design and content, NHATS is intended to foster research that will guide efforts to reduce disability, maximize health and independent functioning, and enhance quality of life at older ages.

The National Long-Term Care Survey is a longitudinal survey designed to study changes in the health and functional status of older Americans (aged 65+). It also tracks health expenditures, Medicare service use, and the availability of personal, family, and community resources for caregiving.

The NLTCS survey population consists of a sample of 35,789 people drawn from national Medicare enrollment files in 1982 that has been augmented with subsequent samples of approximately 20,000 Medicare enrollees obtained by adding 5,000 people passing age 65 between successive surveys done approximately every five years. This technique ensures a large, nationally-representative sample at each point in time. Both elderly in the community (including those not impaired) and those residing in institutions are represented in the samples. The survey is administered by the U.S. Census Bureau using trained interviewers, and the response rate is above 95 percent for all waves.

The National Social Life, Health, and Aging Project (NSHAP) is a longitudinal, population-based study of health and social factors, aiming to understand the well-being of older, community-dwelling Americans by examining the interactions among physical health and illness, medication use, cognitive function, emotional health, sensory function, health behaviors, social connectedness, sexuality, and relationship quality. NSHAP provides policy makers, health providers, and individuals with useful information and insights into these factors, particularly on social and intimate relationships. The study contributes to finding new ways to improve health as people age.

The NIH Toolbox is a multidimensional set of brief measures assessing cognitive, emotional, motor and sensory function from ages 3 to 85, meeting the need for a standard set of measures that can be used as a “common currency” across diverse study designs and settings.

National Centralized Repository for Alzheimer’s Disease and Related Dementias (NCRAD). This NIH-funded repository provides resources that help researchers identify the genes that contribute to Alzheimer’s and related dementias. NCRAD collects and maintains biological specimens and associated data on study volunteers from a variety of sources, such as participants enrolled at the ADRCs, as well as those in the Alzheimer’s Disease Neuroimaging Initiative (ADNI) study, the ARTFL LEFFTDS Longitudinal Frontotemporal Lobar Degeneration (ALLFTD) study, and other Alzheimer’s and related dementias studies. Biological samples banked at NCRAD include but are not limited to DNA, plasma, serum, RNA, CSF, cell lines (PBMCs, iPSCs, LCLs, etc.), and brain tissue. Since it was funded over 30 years ago, NCRAD has received requests for more than 375,000 biological samples and has sent samples to more than 250 approved investigators and research centers across the world.

NIAGADS organizes, stores, and shares genetic, genomic, and phenotypic data, including clinical and neuropathology data, from NIH-funded genetic studies in a secure environment. NIAGADS currently hosts 76 high-quality human genetics datasets in addition to Alzheimer’s Disease Sequencing Project (ADSP) data, corresponding to 55,241 participants, and has a genomics database for cross-referencing and visualizing known genomic variants and annotations with Alzheimer’s Disease (AD) genetic analysis findings.

The ADSP provides genetic data from large numbers of genetically informative, multi-ethnic, phenotypically well-characterized families having multiple individuals affected with AD, and includes Alzheimer’s disease and Alzheimer’s disease-related dementias (AD/ADRD) cases and controls. NIAGADS is the ADSP Data Coordinating Center that supports ADSP data production, management, and sharing. A partial list of NIAGADS’s many responsibilities includes scheduling, preparing, and maintaining public data releases. NIAGADS also maintains the ADSP website and facilitates community access to ADSP data.

NIAGADS was charged with developing a fully featured data-sharing service for ADSP using cloud technology that was compliant with both Health Insurance Portability & Accountability Act (HIPAA) and the Federal Information Security Management Act of 2002 (FISMA). The NIAGADS Data Sharing Service (DSS) was launched in July 2018 and facilitates the deposition and sharing of genomic data from the ADSP and other NIA-funded AD/ADRD genomic studies with approved users in the research community. NIAGADS provides qualified investigators with several different types of data from genetic/genomic studies, including high-density genotyping and sequencing data, extensive phenotype data, and summary statistics from published genetic studies.

The DSS currently hosts 16,905 whole genomes and 20,503 whole exomes from the ADSP. Later in 2022 there will be a total of ~37,000 ADSP whole genomes available through NIAGADS DSS.