Key variants via Alzheimer's Disease Sequencing Project whole genome sequence data
Yanbing Wang, Chloé Sarnowski, Honghuang Lin, Achilleas N Pitsillides, Nancy L Heard-Costa, Seung Hoan Choi, Dongyu Wang, Joshua C Bis et al.. Alzheimer's & dementia : the journal of the Alzheimer's Association, 2023-08-29
Topic: Genetics and APOE
Seventeen variants were significantly associated with AD within five genomic regions implicating the genes OARD1/NFYA/TREML1, JAZF1, FERMT2, and SLC24A4. KAT8 was implicated by both single variant and rare variant aggregate analyses. This study demonstrates the utility of leveraging WGS to gain insights into AD loci identified via GWAS.
Key findings
- Seventeen variants were significantly associated with AD within five genomic regions implicating the genes OARD1/NFYA/TREML1, JAZF1, FERMT2, and SLC24A4.
- KAT8 was implicated by both single variant and rare variant aggregate analyses.
- This study demonstrates the utility of leveraging WGS to gain insights into AD loci identified via GWAS.
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Study details
- Evidence strengthLow
How this study scored 45/100
Published in a leading specialty journal. 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 journal's citation record, 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 25 of the 56 points we could judge it on, which is 45 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (Alzheimer's & dementia : the journal of the Alzheimer's Association) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| 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 | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| 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 37693453) |
| Free to read | — / 2 | Access not recorded — left out of this score |
| Points | 25 / 56 | Scored on 10 of 20 parts. We have no data for the rest, so they are left out: 25 of the 56 points we could judge it on is 45 out of 100. |
| Total | 45 / 100 | — |
What each of these 20 components measures, and what this score is not →
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Cite this study APA, Vancouver, BibTeX · download .bib or .ris
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's author list ends in “et al.”, so not every author is named. Check the citation against the original before you use it.
APA 7th
Wang, Y., Sarnowski, C., Lin, H., Pitsillides, A. N., Heard-Costa, N. L., Choi, S. H., et al. (2023). Key variants via Alzheimer's Disease Sequencing Project whole genome sequence data. Alzheimer's & dementia : the journal of the Alzheimer's Association. https://doi.org/10.1101/2023.08.28.23294631
Vancouver
Wang Y, Sarnowski C, Lin H, Pitsillides AN, Heard-Costa NL, Choi SH, et al. Key variants via Alzheimer's Disease Sequencing Project whole genome sequence data. Alzheimer's & dementia : the journal of the Alzheimer's Association. 2023. doi:10.1101/2023.08.28.23294631. PMID: 37693453.
BibTeX
@article{wang2023-37693453,
author = {Wang, Yanbing and Sarnowski, Chloé and Lin, Honghuang and Pitsillides, Achilleas N and Heard-Costa, Nancy L and Choi, Seung Hoan and Wang, Dongyu and Bis, Joshua C and others},
title = {{Key variants via Alzheimer's Disease Sequencing Project whole genome sequence data}},
journal = {Alzheimer's \& dementia : the journal of the Alzheimer's Association},
year = {2023},
doi = {10.1101/2023.08.28.23294631},
pmid = {37693453},
url = {https://doi.org/10.1101/2023.08.28.23294631}
}
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