Description
Data Available
To access this data, please log into DSS and submit an application.
Within the application, add this dataset (accession NG00116) in the “Choose a dataset” section.
Once approved, you will be able to log in and access the data within the DARM portal.
Description
Many regions of the human genome present challenges that prohibit scientists from discovering potential disease-causing mutations. We developed methods to characterize mutations in these regions to rescue mutations that are otherwise overlooked. PMID: 31104630
Provided here are variant calls in VCF format for 14,526 samples derived from the ADSP whole-exome and whole-genome sequencing dataset (available via DSS: NG00067). For phenotypic information for the participants in this dataset, please also apply for access to the ADSP. A crosswalk file that maps the IDs between this dataset and the ADSP IDs is provided within this dataset.
Sample Summary per Data Type
Sample Set | Accession | Data Type | Number of Samples |
---|---|---|---|
Camouflaged Variants | snd10074 | Camouflaged Variants | 14,526 |
Available Filesets
Name | Accession | Latest Release | Description |
---|---|---|---|
Camouflaged Variants in VCF Format | fsa000090 | NG00116.v1 | Camouflaged Variants in VCF Format, README |
View the File Manifest for a full list of files released in this dataset.
Subject Information
This sample set includes a .vcf file containing camouflaged variants from the 14,526 ADSP samples that were described in Ebbert et al. 2019. PMID: 31104630 This dataset was originally derived from the primary ADSP data available in NG00067.
Sample Set | Accession Number | Number of Subjects |
---|---|---|
Camouflaged Variants | snd10074 | 14,314 |
Related Studies
Consent Levels
Consent Level | Number of Subjects |
---|---|
DS-ADRD-IRB-PUB | 391 |
DS-ADRD-IRB-PUB-NPU | 607 |
DS-ADRDAGE-IRB-PUB | 929 |
DS-ADRDMEM-IRB-PUB-NPU | 104 |
DS-AGEADLT-IRB-PUB | 644 |
DS-ND-IRB-PUB | 312 |
DS-ND-IRB-PUB-MDS | 18 |
DS-ND-IRB-PUB-NPU | 929 |
DS-NEURO-IRB-PUB | 91 |
DS-NEURO-IRB-PUB-NPU | 145 |
GRU-IRB-PUB | 5428 |
GRU-IRB-PUB-NPU | 101 |
HMB-IRB-PUB | 1086 |
HMB-IRB-PUB-GSO | 745 |
HMB-IRB-PUB-MDS | 1260 |
HMB-IRB-PUB-NPU | 1250 |
HMB-IRB-PUB-NPU-MDS | 274 |
Visit the Data Use Limitations page for definitions of the consent levels above.
Acknowledgement
Acknowledgment statement for any data distributed by NIAGADS:
Data for this study were prepared, archived, and distributed by the National Institute on Aging Alzheimer’s Disease Data Storage Site (NIAGADS) at the University of Pennsylvania (U24-AG041689), funded by the National Institute on Aging.
Use the study-specific acknowledgement statements below (as applicable):
For investigators using any data from this dataset:
Please cite/reference the use of NIAGADS data by including the accession NG00116.
For investigators using Resolving mutations in challenging genomic regions to test association with disease phenotypes (sa000042) data:
This work was funded by the following grants awarded to Dr. Mark Ebbert from: (1) the NIH (NIA: R01AG068331 and NIGMS: R35GM138636), the Alzheimer’s Association (2019-AARG-644082), and the BrightFocus Foundation (A2020161S). Additional support from the NIH/NCATS awarded to Dr. P. Kern (UL1 TR001998).
Related Publications
Ebbert, M.T.W., Jensen, T.D., Jansen-West, K. et al. Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight. Genome Biol. 2019 May. doi: 10.1186/s13059-019-1707-2. PubMed link
Cohorts
- Adult Changes in Thought (ACT)
- Atherosclerosis Risk in Communities (ARIC)
- Cardiovascular Health Study (CHS)
- Chicago Health and Aging Project (CHAP)
- Erasmus Rucphen Family (ERF)
- Estudio Familiar de Influencia Genetica en Alzheimer (EFIGA)
- Framingham Heart Study (FHS)
- Genetic Differences (GenDiff)
- Indianapolis-Ibadan (IIAA/IIBD)
- Mayo Clinic (MAYO)
- Multi-Institutional Research in Alzheimer's Genetic Epidemiology (MIRAGE)
- NIA Alzheimer's Disease Research Centers (ADRC)
- National Centralized Repository for Alzheimer’s Disease and Related Dementias Family (NCRAD Family)
- National Institute on Aging Late Onset of Alzheimer's Disease Family (NIA-LOAD)
- Religious Orders Study/Memory and Aging Project (ROSMAP)
- Rotterdam Study (RS)
- Texas Alzheimer’s Research and Care Consortium (TARCC)
- University of Toronto (TOR)
- University of Washington Families (RAS)
- Vanderbilt University (VAN)
- Washington Heights and Inwood Community Aging project (WHICAP)