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Updated: Jun 5, 2025
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Ultra-long Read Sequencing for Whole Genomic DNA Analysis
Published on: March 15, 2019
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Alzheimer's Disease Sequencing Project Release 4 Whole Genome Sequencing Dataset
Yuk Yee Leung1,2, Wan-Ping Lee1,2, Amanda B Kuzma1,2
1Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania.
Medrxiv : the Preprint Server for Health Sciences
|December 16, 2024
Summary
The Alzheimer's Disease Sequencing Project (ADSP) released whole-genome data from diverse populations to uncover genetic factors in Alzheimer's Disease and Related Dementias (AD/ADRD). This valuable resource aids researchers in understanding AD/ADRD genetics.
Area of Science:
- Genomics
- Neuroscience
- Population Genetics
Background:
- Alzheimer's Disease and Related Dementias (AD/ADRD) pose a significant public health challenge.
- Understanding the genetic underpinnings of AD/ADRD is crucial for developing effective diagnostics and therapeutics.
- Previous genetic studies have primarily focused on European ancestry populations, limiting insights into diverse genetic architectures.
Purpose of the Study:
- To present the fourth release (R4) of whole-genome sequencing data from the Alzheimer's Disease Sequencing Project (ADSP).
- To provide a comprehensive genetic dataset from a diverse cohort, including individuals of non-European ancestry.
- To facilitate research into the genetic architecture of AD/ADRD across various populations.
Main Methods:
- Whole-genome sequencing of 36,361 ADSP participants, including 35,014 genetically unique individuals.
- Processing of data by the Genome Center for Alzheimer's Disease (GCAD) across 17 cohorts in 14 countries.
- Inclusion of 45% of participants from non-European ancestries to enhance diversity.
Main Results:
- Identification of 387 million bi-allelic variants, 42 million short insertions/deletions, and 2.2 million structural variants.
- Availability of comprehensive annotations and quality control data for all identified variants and samples.
- Provision of detailed phenotypic data for 15,927 participants across 10 domains.
Conclusions:
- The ADSP R4 dataset represents a substantial advancement in understanding the genetic landscape of AD/ADRD in diverse populations.
- The publicly accessible data and tools empower researchers to explore novel genetic associations and mechanisms.
- This resource is expected to accelerate the discovery of new therapeutic targets and personalized medicine approaches for AD/ADRD.
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