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Alzheimers Dement. 2018 Apr;14(4):514-519. doi: 10.1016/j.jalz.2017.11.013. Epub 2018 Jan 5.

Assembly of 809 whole mitochondrial genomes with clinical, imaging, and fluid biomarker phenotyping.

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Department of Biology, Brigham Young University, Provo, UT, USA.
Radiology and Imaging Sciences, Medical and Molecular Genetics and the Indiana Alzheimer's Disease Center, Indiana University School of Medicine, Indianapolis, IN, USA.
Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Partners HealthCare Personalized Medicine, The Broad Institute and Harvard Medical School, Boston, MA, USA.
Department of Biology, Brigham Young University, Provo, UT, USA; Department of Neuroscience, Brigham Young University, Provo, UT, USA. Electronic address:



Mitochondrial genetics are an important but largely neglected area of research in Alzheimer's disease. A major impediment is the lack of data sets.


We used an innovative, rigorous approach, combining several existing tools with our own, to accurately assemble and call variants in 809 whole mitochondrial genomes.


To help address this impediment, we prepared a data set that consists of 809 complete and annotated mitochondrial genomes with samples from the Alzheimer's Disease Neuroimaging Initiative. These whole mitochondrial genomes include rich phenotyping, such as clinical, fluid biomarker, and imaging data, all of which is available through the Alzheimer's Disease Neuroimaging Initiative website. Genomes are cleaned, annotated, and prepared for analysis.


These data provide an important resource for investigating the impact of mitochondrial genetic variation on risk for Alzheimer's disease and other phenotypes that have been measured in the Alzheimer's Disease Neuroimaging Initiative samples.


ADNI; Alzheimer's disease; Mitochondrial genetics; Next-generation sequencing; Whole mitochondrial genomes

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