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Description

Single-neuron amplified genome libraries were sequenced (WGS) on Illumina instruments and aligned to the human reference genome GRCh37. Linked-read analysis (LiRA) and SCAN-SNV were used to identify single-cell somatic mutations. The single-cell dataset includes a total of 319 single-neuron genome sequences (172 PFC-MDA, 78 HC-MDA, 69 PFC-PTA). Sequence files are in .bam format.

Sample Summary per Data Type

Sample SetAccessionData TypeNumber of Samples
Alzheimer’s disease single-neuron whole-genome sequencing – Miller 2022snd10029Single-Neuron WGS29

Available Filesets

NameAccessionLatest ReleaseDescription
AD WGS – Miller: Single-neuron WGS BAM filesfsa000024NG00121.v1Single-neuron WGS BAM files
AD WGS – Miller: Phenotype filesfsa000025NG00121.v1Phenotype files

View the File Manifest for a full list of files released in this dataset.

This study performed whole-genome sequencing of single neurons isolated from prefrontal cortex (PFC) and hippocampus CA1 (HC) of postmortem human brain of individuals with Alzheimer’s disease (AD)(Braak stage V-VI) or non-disease control, along with bulk whole-genome sequencing performed on each individual as a reference genome for variant calling. Single neuron genomes were amplified using multiple-displacement amplification (MDA) or primary template-directed amplification (PTA).

Sample SetAccessionNumber of Subjects
Alzheimer’s disease single-neuron whole-genome sequencing – Miller 2022snd10029n = 29
Consent LevelNumber of Subjects
HMB-IRB-PUBn = 22
DS-NEURO-IRB-PUBn = 7

Visit the Data Use Limitations page for definitions of the consent levels above.

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 NG00121.

For investigators using AD Single-Neuron WGS - Miller (sa000022) data:

NIH Sponsoring Institute: NIA

Grant funding: NIH K08 AG065502