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. 2024 Jul 12;11:768. doi: 10.1038/s41597-024-03485-9

Table 8.

Compilation of the most relevant publications leveraging GHTO resources.

Fist Author Title Data Used
Western, D51 Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and informs causal proteins for Alzheimer’s disease.

Array-Based Genomics

CSF proteomics

Wang, C55 Unique genetic architecture of CSF and brain metabolites pinpoints the novel targets for the traits of human wellness.

Array-Based Genomics

CSF & Brain Metabolomics

Ali, M69 Multi-cohort cerebrospinal fluid proteomics identifies robust molecular signatures for asymptomatic and symptomatic Alzheimer’s disease. CSF Proteomics
Do, AN70 CSF proteomic profiling with amyloid/tau positivity identifies distinctive sex-different alteration of multiple proteins involved in Alzheimer’s disease. CSF Proteomics
Wang, L71 Proteo-genomics of soluble TREM2 in cerebrospinal fluid provides novel insights and identifies novel modulators for Alzheimer’s disease.

Array-Based Genomics

CSF proteomics

Cisterna-García, A30 Cell-free RNA signatures predict Alzheimer’s disease. Plasma acellular Transcriptomics
Timsina, J72 Harmonization of CSF and imaging biomarkers in Alzheimer’s disease: Need and practical applications for genetics studies and preclinical classification. CSF Proteomics
Brase, L47 Single-nucleus RNA-sequencing of autosomal dominant Alzheimer disease and risk variant carriers. Brain Single Nuclei Transcriptomics
Oh, HS73 Organ aging signatures in the plasma proteome track health and disease. Plasma Proteomics
Wang, D74 Frequency of Variants in Mendelian Alzheimer’s Disease Genes within the Alzheimer’s Disease Sequencing Project (ADSP). Whole Genome Sequencing
Gorijala, P75 Alzheimer’s polygenic risk scores are associated with cognitive phenotypes in Down syndrome.

Array-Based Genomics

PRS Calculations

Phillips, B76 Proteome wide association studies of LRRK2 variants identify novel causal and druggable proteins for Parkinson’s disease.

Array-Based Genomics

CSF proteomics

Sung, YJ48 Proteomics of brain, CSF, and plasma identifies molecular signatures for distinguishing sporadic and genetic Alzheimer’s disease. Brain, Plasma, & CSF Proteomics
Panyard, DJ77 Large-scale proteome and metabolome analysis of CSF implicates altered glucose and carbon metabolism and succinylcarnitine in Alzheimer’s disease.

Proteomics

Metabolomics

Bradley, J78 Genetic architecture of plasma Alzheimer disease biomarkers.

Array-Based Genomics

Plasma proteomics

Ali, M79 Large multi-ethnic genetic analyses of amyloid imaging identify new genes for Alzheimer disease. Array-Based Genomics
Yang, C80 Mendelian randomization and genetic colocalization infer the effects of the multi-tissue proteome on 211 complex disease-related phenotypes.

Array-Based Genomics

Brain & CSF proteomics

Holstege, H81 Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease. Whole Exome Sequencing
Li, F82 Weakly activated core neuroinflammation pathways were identified as a central signaling mechanism contributing to the chronic neurodegeneration in Alzheimer’s disease. Brain Bulk Transcriptomics
Yang, C14 Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders. Brain, Plasma, & CSF Proteomics
Dube, U12 An atlas of cortical circular RNA expression in Alzheimer disease brains demonstrates clinical and pathological associations. Brain Bulk Transcriptomics
Li, Z83 The TMEM106B FTLD-protective variant, rs1990621, is also associated with increased neuronal proportion. Brain Bulk Transcriptomics
Deming, Y84 The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer’s disease risk. Array-Based Genomics
Del-Aguila, JL85 TREM2 brain transcript-specific studies in AD and TREM2 mutation carriers. Brain Bulk Transcriptomics
Fernandez, MV16 Evaluation of Gene-Based Family-Based Methods to Detect Novel Genes Associated With Familial Late Onset Alzheimer Disease.

Whole Genome Sequencing

Whole Exome Sequencing

Cruchaga, C10 Polygenic risk score of sporadic late-onset Alzheimer’s disease reveals a shared architecture with the familial and early-onset forms.

Array-Based Genomics

PRS Calculations

Fernandez, MV18 Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.

Whole Genome Sequencing

Whole Exome Sequencing