Human brain single nucleus cell type enrichments in neurodegenerative diseases
Chelsea X Alvarado, Cory A Weller, Nicholas Johnson, Hampton L Leonard, Andrew B Singleton, Xylena Reed, Cornelis Blauewendraat, Mike Nalls. medRxiv : the preprint server for health sciences, 2023-07-01
Topic: Genetics and APOE
Single cell RNA sequencing has opened a window into clarifying the complex underpinnings of disease, particularly in quantifying the relevance of tissue- and cell-type-specific gene expression. To identify the cell types and genes important to therapeutic target development across the neurodegenerative disease spectrum, we leveraged genome-wide association studies, recent single cell sequencing data, and bulk expression studies in a diverse series of brain region tissues. We were able to identify significant immune-related cell types in the brain across three major neurodegenerative diseases: Alzheimer's Disease, Amyotrophic Lateral Sclerosis, and Parkinson's Diseases. Subsequently, we identified the major role of 30 fine-mapped loci implicating seven genes in multiple neurodegenerative diseases and their pathogenesis.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Alvarado, C. X., Weller, C. A., Johnson, N., Leonard, H. L., Singleton, A. B., Reed, X., et al. (2023). Human brain single nucleus cell type enrichments in neurodegenerative diseases. medRxiv : the preprint server for health sciences. https://doi.org/10.1101/2023.06.30.23292084
Vancouver
Alvarado CX, Weller CA, Johnson N, Leonard HL, Singleton AB, Reed X, et al. Human brain single nucleus cell type enrichments in neurodegenerative diseases. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.06.30.23292084. PMID: 37577689.
BibTeX
@article{alvarado2023-37577689,
author = {Alvarado, Chelsea X and Weller, Cory A and Johnson, Nicholas and Leonard, Hampton L and Singleton, Andrew B and Reed, Xylena and Blauewendraat, Cornelis and Nalls, Mike},
title = {{Human brain single nucleus cell type enrichments in neurodegenerative diseases}},
journal = {medRxiv : the preprint server for health sciences},
year = {2023},
doi = {10.1101/2023.06.30.23292084},
pmid = {37577689},
url = {https://doi.org/10.1101/2023.06.30.23292084}
}
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. The record names 8 authors; APA and Vancouver show the first six, BibTeX and the downloads carry all of them. Check the citation against the original before you use it.
Key findings
- We were able to identify significant immune-related cell types in the brain across three major neurodegenerative diseases: Alzheimer's Disease, Amyotrophic Lateral Sclerosis, and Parkinson's Diseases.
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Study details
- Evidence strengthLow
How this study scored 16/100
Preprint — not yet peer-reviewed. It scored 20 on the same rubric, but non-peer-reviewed sources are capped at 16, so it shows as 16. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it. We have no data on times cited, citations per year, impact for its field and year, cited by studies here, still being cited, senior author's track record, institution's track record, multi-centre collaboration and free to read, so those were left out: it earned 12 of the 60 points we could judge it on, which is 20 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 2 / 10 | Tier 4 — not a peer-reviewed journal (medRxiv : the preprint server for health sciences) |
| Journal's citation record | 0 / 4 | Not a journal article, so the journal's record does not count |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 4 / 10 | Preprint — not yet peer-reviewed. Hosted on a preprint server. |
| How recent | 3 / 5 | 2023 — within 6 year(s) of the newest study here |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 0 / 3 | Not stated whether this was studied in people — scores zero (not stated in the record — scored 0) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | — / 7 | No citation count (not found in OpenAlex) — left out of this score |
| Citations per year | — / 5 | No citation count or no year — left out of this score |
| Impact for its field and year | — / 6 | No field-weighted citation impact (OpenAlex has none yet) — left out of this score |
| Cited by studies here | — / 6 | Not yet checked against this library's citation graph — left out of this score |
| Still being cited | — / 4 | No yearly citation counts — left out of this score |
| Senior author's track record | — / 4 | Senior author's record not available — left out of this score |
| Institution's track record | — / 3 | No institution listed in OpenAlex — left out of this score |
| Multi-centre collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 37577689) |
| Free to read | — / 2 | Access not recorded — left out of this score |
| Points | 12 / 60 | Scored on 11 of 20 parts. We have no data for the rest, so they are left out: 12 of the 60 points we could judge it on is 20 out of 100. |
| Total | 20 / 100 | Capped to 16 because this is not a peer-reviewed article. |
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