PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses
Shaun Purcell, Benjamin M. Neale, Katherine EO Todd-Brown, L. Odong Thomas, Manuel A. R. Ferreira, David Bender, Julian Maller, Pamela Sklar, Paul I. W. de Bakker, Mark J. Daly, Pak Chung Sham. The American Journal of Human Genetics, 2007-08-08
Topic: Brain proteins, microglia and lab models
To address computational and analytic challenges in whole-genome association studies (WGAS), researchers developed PLINK, an open-source C/C++ tool set. PLINK allows large data sets comprising hundreds of thousands of markers genotyped for thousands of individuals to be rapidly manipulated and analyzed in their entirety. The paper introduces PLINK and describes its five main domains of function: data management, summary statistics, population stratification, association analysis, and identity-by-descent estimation.
Key findings
- PLINK is an open-source C/C++ WGAS tool set developed to address computational and analytic challenges in whole-genome association studies.
- With PLINK, large data sets comprising hundreds of thousands of markers genotyped for thousands of individuals can be rapidly manipulated and analyzed in their entirety.
- PLINK supports five main domains of function: data management, summary statistics, population stratification, association analysis, and identity-by-descent estimation.
- Identity-by-state and identity-by-descent information can be used to detect and correct for population stratification and to identify extended chromosomal segments shared identical by descent between very distantly related individuals.
- Analysis of the patterns of segmental sharing has the potential to map disease loci that contain multiple rare variants in a population-based linkage analysis.
Why it matters
Describes PLINK, a tool set for whole-genome association and population-based linkage analyses.
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How this study scored 59/100
Published in a peer-reviewed 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 strength of evidence, so that was left out: it earned 56 of the 95 points we could judge it on, which is 59 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (The American Journal of Human Genetics) |
| Journal's citation record | 3 / 4 | The American Journal of Human Genetics: journal h-index 385 (OpenAlex, 2026-10-29) |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | — / 5 | No evidence rating recorded — left out of this score |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 1 / 5 | 2007 — within 20 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 / 7 | Cited 34,241 times (OpenAlex, 2026-10-10) |
| Citations per year | 5 / 5 | 1,630.5 citations a year over 21 year(s) since 2007 |
| Impact for its field and year | 6 / 6 | Cited 313.0× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 0 / 6 | No other study in this library cites it |
| Still being cited | 4 / 4 | Cited 8,094 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Pak Chung Sham: h-index 133 (OpenAlex, whole career) |
| Institution's track record | 3 / 3 | Harvard University: institution h-index 3,235 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 6 institution(s) in 3 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 17701901) |
| Free to read | 2 / 2 | Free to read |
| Points | 56 / 95 | Scored on 19 of 20 parts. We have no data for the rest, so they are left out: 56 of the 95 points we could judge it on is 59 out of 100. |
| Total | 59 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1086/519795
- PubMed: 17701901
- Original source →
- Free full text: The American Journal of Human Genetics →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
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 names 11 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.
APA 7th
Purcell, S., Neale, B. M., Todd-Brown, K. E. O., Thomas, L. O., Ferreira, M. A. R., Bender, D., et al. (2007). PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses. The American Journal of Human Genetics. https://doi.org/10.1086/519795
Vancouver
Purcell S, Neale BM, Todd-Brown KEO, Thomas LO, Ferreira MAR, Bender D, et al. PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses. The American Journal of Human Genetics. 2007. doi:10.1086/519795. PMID: 17701901.
BibTeX
@article{purcell2007-17701901,
author = {Purcell, Shaun and Neale, Benjamin M. and Todd-Brown, Katherine EO and Thomas, L. Odong and Ferreira, Manuel A. R. and Bender, David and Maller, Julian and Sklar, Pamela and de Bakker, Paul I. W. and Daly, Mark J. and Sham, Pak Chung},
title = {{PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses}},
journal = {The American Journal of Human Genetics},
year = {2007},
doi = {10.1086/519795},
pmid = {17701901},
url = {https://doi.org/10.1086/519795}
}