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The Early-Onset Alzheimer's Disease Whole-Genome Sequencing Project: Study design and methodology.
Ray NR, Ayodele T, Jean-Francois M, Baez P, Fernandez V, Bradley J, Crane PK, Dalgard CL, Kuzma A, Nicaretta H, Sims R, Williams J, Cuccaro ML, Pericak-Vance MA, Mayeux R, Wang LS, Schellenberg GD, Cruchaga C, Beecham GW, Reitz C. Ray NR, et al. Alzheimers Dement. 2023 Sep;19(9):4187-4195. doi: 10.1002/alz.13370. Epub 2023 Jun 30. Alzheimers Dement. 2023. PMID: 37390458
DISCUSSION: This novel resource complements over 50,000 control and late-onset AD samples generated through the Alzheimer's Disease Sequencing Project (ADSP). The harmonized EOAD/ADSP joint call will be available through upcoming …
DISCUSSION: This novel resource complements over 50,000 control and late-onset AD samples generated through the Alzheimer's …
The MUC6/AP2A2 Locus and Its Relevance to Alzheimer's Disease: A Review.
Nelson PT, Fardo DW, Katsumata Y. Nelson PT, et al. J Neuropathol Exp Neurol. 2020 Jun 1;79(6):568-584. doi: 10.1093/jnen/nlaa024. J Neuropathol Exp Neurol. 2020. PMID: 32357373 Free PMC article. Review.
We recently reported evidence of Alzheimer's disease (AD)-linked genetic variation within the mucin 6 (MUC6) gene on chromosome 11p, nearby the adaptor-related protein complex 2 subunit alpha 2 (AP2A2) gene. ...To provide background information, we des …
We recently reported evidence of Alzheimer's disease (AD)-linked genetic variation within the mucin 6 (MUC6) gen …
Molecular Quantitative Trait Locus Mapping in Human Complex Diseases.
Olayinka OA, O'Neill NK, Farrer LA, Wang G, Zhang X. Olayinka OA, et al. Curr Protoc. 2022 May;2(5):e426. doi: 10.1002/cpz1.426. Curr Protoc. 2022. PMID: 35587224 Free PMC article.
We summarize a variety of molecular xQTL studies in human tissues and cells. In addition, using the Alzheimer's Disease Sequencing Project (ADSP) as an example, we describe the ADSP xQTL project, a collaborative effort acros …
We summarize a variety of molecular xQTL studies in human tissues and cells. In addition, using the Alzheimer's Disease …
Frequency of Variants in Mendelian Alzheimer's Disease Genes within the Alzheimer's Disease Sequencing Project (ADSP).
Wang D, Scalici A, Wang Y, Lin H, Pitsillides A, Heard-Costa N, Cruchaga C, Ziegemeier E, Bis JC, Fornage M, Boerwinkle E, De Jager PL, Wijsman E, Dupuis J, Renton AE, Seshadri S, Goate AM; Alzheimer’s Disease Sequencing Project; DeStefano AL, Peloso GM. Wang D, et al. medRxiv [Preprint]. 2024 Mar 29:2023.10.24.23297227. doi: 10.1101/2023.10.24.23297227. medRxiv. 2024. PMID: 37961373 Free PMC article. Preprint.
However, previously-reported clinically-relevant variants and other predicted damaging missense (DM) variants have not been characterized in a newer release of the Alzheimer's Disease Sequencing Project (ADSP). OBJECTIVE: To characterize …
However, previously-reported clinically-relevant variants and other predicted damaging missense (DM) variants have not been characterized in …
Key variants via Alzheimer's Disease Sequencing Project whole genome sequence data.
Wang Y, Sarnowski C, Lin H, Pitsillides AN, Heard-Costa NL, Choi SH, Wang D, Bis JC, Blue EE; Alzheimer’s Disease Neuroimaging Initiative (ADNI); Boerwinkle E, De Jager PL, Fornage M, Wijsman EM, Seshadri S, Dupuis J, Peloso GM, DeStefano AL; Alzheimer’s Disease Sequencing Project (ADSP). Wang Y, et al. medRxiv [Preprint]. 2023 Aug 29:2023.08.28.23294631. doi: 10.1101/2023.08.28.23294631. medRxiv. 2023. PMID: 37693453 Free PMC article. Updated. Preprint.
INTRODUCTION: Genome-wide association studies (GWAS) have identified loci associated with Alzheimer's disease (AD) but did not identify specific causal genes or variants within those loci. ...METHODS: We performed single common variant association analysis …
INTRODUCTION: Genome-wide association studies (GWAS) have identified loci associated with Alzheimer's disease (AD) but …
Large-scale sequencing studies expand the known genetic architecture of Alzheimer's disease.
Xue D, Bush WS, Renton AE, Marcora EA, Bis JC, Kunkle BW; Alzheimer's Disease Sequencing Project; Boerwinkle E, DeStefano AL, Farrer L, Goate A, Mayeux R, Pericak-Vance M, Schellenberg G, Seshadri S, Wijsman E, Haines JL, Blue EE. Xue D, et al. Alzheimers Dement (Amst). 2021 Dec 31;13(1):e12255. doi: 10.1002/dad2.12255. eCollection 2021. Alzheimers Dement (Amst). 2021. PMID: 35005195 Free PMC article.
INTRODUCTION: Genes implicated by genome-wide association studies and family-based studies of Alzheimer's disease (AD) are largely discordant. We hypothesized that genes identified by sequencing studies like the Alzheimer's Disease …
INTRODUCTION: Genes implicated by genome-wide association studies and family-based studies of Alzheimer's disease (AD) …
Key variants via the Alzheimer's Disease Sequencing Project whole genome sequence data.
Wang Y, Sarnowski C, Lin H, Pitsillides AN, Heard-Costa NL, Choi SH, Wang D, Bis JC, Blue EE; Alzheimer's Disease Neuroimaging Initiative (ADNI); Boerwinkle E, De Jager PL, Fornage M, Wijsman EM, Seshadri S, Dupuis J, Peloso GM, DeStefano AL; Alzheimer's Disease Sequencing Project (ADSP). Wang Y, et al. Alzheimers Dement. 2024 May;20(5):3290-3304. doi: 10.1002/alz.13705. Epub 2024 Mar 21. Alzheimers Dement. 2024. PMID: 38511601 Free PMC article.
INTRODUCTION: Genome-wide association studies (GWAS) have identified loci associated with Alzheimer's disease (AD) but did not identify specific causal genes or variants within those loci. ...METHODS: We performed single common variant association analysis …
INTRODUCTION: Genome-wide association studies (GWAS) have identified loci associated with Alzheimer's disease (AD) but …
The Role of X Chromosome in Alzheimer's Disease Genetics.
Belloy ME, Guen YL, Stewart I, Herz J, Sherva R, Zhang R, Merritt V, Panizzon MS, Hauger RL; VA Million Veteran Program; Gaziano JM, Logue M, Napolioni V, Greicius MD. Belloy ME, et al. medRxiv [Preprint]. 2024 Apr 23:2024.04.22.24306094. doi: 10.1101/2024.04.22.24306094. medRxiv. 2024. PMID: 38712163 Free PMC article. Preprint.
IMPORTANCE: The X chromosome has remained enigmatic in Alzheimer's disease (AD), yet it makes up 5% of the genome and carries a high proportion of genes expressed in the brain, making it particularly appealing as a potential source of unexplored genetic …
IMPORTANCE: The X chromosome has remained enigmatic in Alzheimer's disease (AD), yet it makes up 5% of the genome and c …
Admixture mapping identifies novel Alzheimer's disease risk regions in African Americans.
Rajabli F, Tosto G, Hamilton-Nelson KL, Kunkle BW, Vardarajan BN, Naj A, Whitehead PG, Gardner OK, Bush WS, Sariya S, Mayeux RP, Farrer LA, Cuccaro ML, Vance JM, Griswold AJ, Schellenberg GD, Haines JL, Byrd GS, Reitz C, Beecham GW, Pericak-Vance MA, Martin ER; Alzheimer's Disease Genetics Consortium (ADGC), Collaboration on Alzheimer's Disease Research (CADRE) and Alzheimer's Disease Sequencing Project (ADSP). Rajabli F, et al. Alzheimers Dement. 2023 Jun;19(6):2538-2548. doi: 10.1002/alz.12865. Epub 2022 Dec 20. Alzheimers Dement. 2023. PMID: 36539198 Free PMC article.
BACKGROUND: This study used admixture mapping to prioritize the genetic regions associated with Alzheimer's disease (AD) in African American (AA) individuals, followed by ancestry-aware regression analysis to fine-map the prioritized regions. .. …
BACKGROUND: This study used admixture mapping to prioritize the genetic regions associated with Alzheimer's disease …
Immunogenomics Parameters for Patient Stratification in Alzheimer's Disease.
Huda TI, Diaz MJ, Gozlan EC, Chobrutskiy A, Chobrutskiy BI, Blanck G. Huda TI, et al. J Alzheimers Dis. 2022;88(2):619-629. doi: 10.3233/JAD-220119. J Alzheimers Dis. 2022. PMID: 35662120
BACKGROUND: Despite the fact that only modest adaptive immune system related approaches to treating Alzheimer's disease (AD) are available, an immunogenomics approach to the study of AD has not yet substantially advanced. ...
BACKGROUND: Despite the fact that only modest adaptive immune system related approaches to treating Alzheimer's disease …
47 results