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ADSP Flagship Papers

Learn about the ADSP, as well as data and data-related resources it has generated, by reading the papers below.

ADSP Overview

Paper DescriptionTitlePMID
ADSP study designThe Alzheimer's Disease Sequencing Project: Study design and sample selection29184913

ADSP Data Releases

Paper DescriptionTitlePMID
R1 (variant analyses)Key variants via the Alzheimer's Disease Sequencing Project whole genome sequence data38511601
R2 (pipeline and data descriptor)Human whole-exome genotype data for Alzheimer's disease38263370
R3 (SV analyses)Structural variation detection and association analysis of whole-genome-sequence data from 16,543 Alzheimer's disease sequencing project subjects40528303
R3 (SV analyses)The impact of structural variation on Alzheimer's disease in the Alzheimer's disease sequencing project42958586
R4 (data descriptor)Alzheimer's Disease Sequencing Project release 4 whole genome sequencing dataset40407102

NIAGADS/ADSP Resources & Tools

Paper DescriptionTitlePMID
NIAGADS repository (flagship)NIAGADS: A data repository for Alzheimer's disease and related dementia genomics40545618
NIAGADS GenomicsDBNIAGADS Alzheimer's GenomicsDB: a resource for exploring Alzheimer's disease genetic and genomic knowledge37881831
ADVPAlzheimer's disease variant portal (ADVP): a catalog of genetic findings for Alzheimer's disease35068457
FILERFILER: a framework for harmonizing and querying large-scale functional genomics knowledge35047815

GCAD Bioinformatics Tools

Paper DescriptionTitlePMID
VCPA WGSVCPA: genomic variant calling pipeline and data management tool for Alzheimer's Disease Sequencing Project30351394
VCPA WESHuman whole-exome genotype data for Alzheimer's disease38263370
ADSP/GCAD QCQuality control and integration of genotypes from two calling pipelines for whole genome sequence data in the Alzheimer's disease sequencing project29857119
ADSP annotationFunctional annotation of genomic variants in studies of late-onset Alzheimer’s disease29590295
ADSP imputation panelA specialized reference panel with structural variants integration for improving genotype imputation in Alzheimer disease and related dementias40751311