Overview
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).
Principal Investigators
- Mark Ebbert, Ph.D. — University of Kentucky
- John Fryer, Ph.D. — Mayo Clinic
- Leonard Petrucelli, M.D., Ph.D. — Mayo Clinic
Funding Sources
R01 AG068331-02: Using long-range technologies as a multi-omic approach to understand Alzheimer's disease in brain tissue R35 GM138636: Understanding how structural mutations and individual RNA isoforms are involved in human health and disease
Associated Datasets
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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…
Associated Sample Sets
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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).
Cohorts
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The Adult Changes in Thought (ACT) study is a longitudinal prospective cohort study that began in 1994. Participants are randomly selected from Seattle area members of Group Health aged 65…
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The Atherosclerosis Risk in Communities Study (ARIC), sponsored by the National Heart, Lung, and Blood Institute (NHLBI) is a prospective epidemiologic study conducted in four U.S. communities. ARIC is designed…
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The Cardiovascular Health Study (CHS) is an NHLBI-funded observational study of risk factors for cardiovascular disease in adults 65 years or older (n=5888, including a secondary cohort of predominately African-American…
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The Chicago Healthy Aging Project (CHAP) is a longitudinal population study of an urban general population sample (n= 10,000+) lasting from 1993 to 2012 of common chronic health problems of…
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A family-based cohort study that is embedded in the Genetic Research in Isolated Populations (GRIP) program in the South West of the Netherlands. The aim of this program was to…
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Estudio Familiar de Influencia Genetica en Alzheimer (EFIGA) included 683 at-risk family members from 242 AD-affected families of Caribbean Hispanic descent. These families have 2 or more individuals affected with Alzheimer’s…
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The Framingham Heart Study, under the direction of the National Heart, Lung and Blood Institute (NHLBI), formerly known as the National Heart Institute, has been committed to identifying the common…
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Genetic Differences (GenDiff) was an epidemiologic case control study. Cases (235) were newly recognized (e.g., "incident") "Probable AD" (McKhann criteria NINCDS-ADRDA). Subjects were discovered and diagnosed by the Alzheimer's Disease…
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The Indianapolis-Ibadan Dementia Project, established in 1991, is a longitudinal prospective population-based comparative epidemiological study of the prevalence and incidence rates and risk factors for Alzheimer’s disease and other age…
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All 248 cases and 98 controls consisted of Caucasian subjects from the United States ascertained at the Mayo Clinic. All subjects were diagnosed by a neurologist at the Mayo Clinic…
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The Multi-Institutional Research in Alzheimer’s Genetic Epidemiology (MIRAGE) Study is a family study funded by the NIA that began in 1991. The goal of MIRAGE is to identify genetic and…
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The National Centralized Repository for Alzheimer’s Disease and Related Dementias (NCRAD) family cohort was started in 1990 and consists of families with two or more members with early or late…
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The FBS collection is a longitudinal, multi-center late onset AD sibling genetics initiative. This NIA-funded study began in 2,002 and maintains DNA and cell lines on families with 2 or…
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The NIA ADRC cohort included subjects ascertained and evaluated by the clinical and neuropathology cores of the 32 NIA-funded ADRCs. Data collection is coordinated by the National Alzheimer’s Coordinating Center…
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The Religious Orders Study (ROS) is a longitudinal, epidemiologic clinical-pathological study of memory, motor, and functional problems in older Catholic nuns, priests, and brothers aged 65 years and older from…
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The Rotterdam Elderly Study is a prospective cohort study in the Ommoord district in the city of Rotterdam, the Netherlands [Hofman et al., 1991]. Following the pilot in 1989, recruitment…
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Data from the Texas Alzheimer’s Research and Care Consortium (TARCC) includes cases enrolled at several major medical research institutions (as of 2013 this included Baylor College of Medicine, Texas Tech…
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Each affected individual met NINCDS-ADRDA criteria for probable or definite AD with age at onset greater than 60 years, as determined from specific probe questions within the clinical history provided…
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This study was carried out under the direction of Dr. Peter St George-Hyslop and Dr Rogaeva at the Tanz Centre for Research in Neurodegenerative Diseases (CRND), University of Toronto. In…
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131 families with LOAD (751 individuals) were ascertained and evaluated through the University of Washington Alzheimer Disease Research Center. Clinical and neuropathological assessments of cases and controls, including blood sampling,…
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The UM/VU dataset contains 1,186 cases and 1,135 CNEs (new and previously published) ascertained at the University of Miami and Vanderbilt University, including 409 autopsy-confirmed cases and 136 controls. An…
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Unrelated Nondemented (initially), 65 years of age or older including non‐Hispanic whites (32%), African Americans (28%), and Caribbean Hispanics from the Dominican Republic (44%). Assessments include: medical evaluation, cognitive testing,…
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.
For investigators using Resolving mutations in challenging genomic regions to test association with disease phenotypes 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).