Evidence map›Paper›PMID 25722852›Full record

ArticleGigaScience2015

Second-generation PLINK: rising to the challenge of larger and richer datasets.

Christopher C Chang, Carson C Chow, Laurent Cam Tellier, Shashaank Vattikuti, Shaun M Purcell, James J Lee

Abstract read
In one paragraph

Article in GigaScience, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7,613 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7,613citing papers in PubMed, 6 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7,613 citing papers in PubMed, 6 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Pooled it
  6. Pooled it
  7. Article
  8. Article
  9. Article
  10. Article
  11. Linking suspects to an illegally felled incense tree (Forensic science international. Synergy · 2026
    Article
  12. Population Differentiation and Polygenic Selection in the Finnish Ayrshire Cows Selected on Genomic Information.Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie · 2026
    Article
  13. Article
  14. Evaluating the Predictive Value of Estimated Breeding Values of Piétrain Sires for Uniformity and Survival in Their Crossbred Progeny.Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie · 2026
    Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Article

7,553 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Christopher C ChangComplete Genomics, 2071 Stierlin Court, Mountain View, 94043 CA USA ; BGI Cognitive Genomics Lab, Building No. 11, Bei Shan Industrial Zone, Yantian District, Shenzhen, 518083 China.
Carson C ChowMathematical Biology Section, NIDDK/LBM, National Institutes of Health, Bethesda, 20892 MD USA.
Laurent Cam TellierBGI Cognitive Genomics Lab, Building No. 11, Bei Shan Industrial Zone, Yantian District, Shenzhen, 518083 China ; Bioinformatics Centre, University of Copenhagen, Copenhagen, 2200 Denmark.
Shashaank VattikutiMathematical Biology Section, NIDDK/LBM, National Institutes of Health, Bethesda, 20892 MD USA.
Shaun M PurcellStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, 02142 MA USA ; Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, 10029 NY USA ; Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, 10029 NY USA ; Analytic and Translational Genetics Unit, Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, 02114 MA USA.
James J LeeMathematical Biology Section, NIDDK/LBM, National Institutes of Health, Bethesda, 20892 MD USA ; Department of Psychology, University of Minnesota Twin Cities, Minneapolis, 55455 MN USA.

Funding

Analysis of genome wide dataZIADK075068 · NIDDK · NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES · PI CHOW, CARSON · 2012 to 2020
$2.0M
Intramural NIH HHS
6 · The paper itself

Abstract

backgroundPLINK 1 is a widely used open-source C/C++ toolset for genome-wide association studies (GWAS) and research in population genetics. However, the steady accumulation of data from imputation and whole-genome sequencing studies has exposed a strong need for faster and scalable implementations of key functions, such as logistic regression, linkage disequilibrium estimation, and genomic distance evaluation. In addition, GWAS and population-genetic data now frequently contain genotype likelihoods, phase information, and/or multiallelic variants, none of which can be represented by PLINK 1's primary data format.

findingsTo address these issues, we are developing a second-generation codebase for PLINK. The first major release from this codebase, PLINK 1.9, introduces extensive use of bit-level parallelism, [Formula: see text]-time/constant-space Hardy-Weinberg equilibrium and Fisher's exact tests, and many other algorithmic improvements. In combination, these changes accelerate most operations by 1-4 orders of magnitude, and allow the program to handle datasets too large to fit in RAM. We have also developed an extension to the data format which adds low-overhead support for genotype likelihoods, phase, multiallelic variants, and reference vs. alternate alleles, which is the basis of our planned second release (PLINK 2.0).

conclusionsThe second-generation versions of PLINK will offer dramatic improvements in performance and compatibility. For the first time, users without access to high-end computing resources can perform several essential analyses of the feature-rich and very large genetic datasets coming into use.

Indexed as

Computational BiologyDatasets as TopicSoftwareAlgorithmsGenetics, PopulationGenome-Wide Association StudyGenotyping TechniquesLikelihood FunctionsLinkage DisequilibriumLogistic ModelsPolymorphism, Single NucleotideComputational statisticsGWASHigh-density SNP genotypingPopulation geneticsWhole-genome sequencing

Identifiers

PMID25722852
PMCPMC4342193

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.