Evidence map›Paper›PMID 39566101›Full record

ArticleG3 (Bethesda, Md.)2025

GenoTools: an open-source Python package for efficient genotype data quality control and analysis.

Dan Vitale, Mathew J Koretsky, Nicole Kuznetsov, Samantha Hong, Jessica Martin, Mikayla James, Mary B Makarious, Hampton Leonard, Hirotaka Iwaki, Faraz Faghri and 7 more

Abstract read
In one paragraph

Article in G3 (Bethesda, Md.), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.

0numbers the graph read from it
0cells of the map it votes in
54citing papers in PubMed
–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

54 citing papers in PubMed.

  1. Article
  2. Frequency of ZFHX3-Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia Cohort.Movement disorders : official journal of the Movement Disorder Society · 2026
    Article
  3. The Global Parkinson's Disease Genetics (GP2) Genome Browser.Movement disorders : official journal of the Movement Disorder Society · 2026
    Article
  4. Article
  5. Observational
  6. Cross-ancestry polygenic risk scores enhance Alzheimer's disease risk prediction in multiethnic cohorts.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026
    Article
  7. medRxiv : the preprint server for health sciences · 2026
    Article
  8. Article
  9. Article
  10. Article
  11. Multi-ancestry analysis ofmedRxiv : the preprint server for health sciences · 2026
    Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. The diploid reference genome of a human embryonic stem cell line.bioRxiv : the preprint server for biology · 2026
    Article
  19. Bridging Genetics and Precision Medicine in Parkinson's Disease through GP2.medRxiv : the preprint server for health sciences · 2026
    Article
  20. Pathology and genetics in a global cohort of Parkinsonian Disorders.medRxiv : the preprint server for health sciences · 2026
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

17 authors.

Dan VitaleCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0002-0637-3671
Mathew J KoretskyCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Nicole KuznetsovCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Samantha HongCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0009-0001-8968-6461
Jessica MartinCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0009-0000-0830-9289
Mikayla JamesCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Mary B MakariousCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Hampton LeonardCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Hirotaka IwakiCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Faraz FaghriCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0001-5744-8728
Cornelis BlauwendraatCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0001-9358-8111
Andrew B SingletonCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Yeajin SongCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Kristin LevineCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Ashwin Ashok Kumar-SreelathaCentre for Genetic Epidemiology, Institute for Clinical Epidemiology and Applied Biometry, University of Tübingen, Tübingen 72074, Germany.
Zih-Hua FangGerman Center for Neurodegenerative Diseases (DZNE), Tübingen 72076, Germany.
Mike NallsCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.

Funding

Aligning Science Across Parkinson's (ASAPIntramural Research Program of the NIHNational Institutes of Health, Department of Health and Human Services ZO1 AG000534NIA NIH HHSNINDS NIH HHS
6 · The paper itself

Abstract

GenoTools, a Python package, streamlines population genetics research by integrating ancestry estimation, quality control, and genome-wide association studies capabilities into efficient pipelines. By tracking samples, variants, and quality-specific measures throughout fully customizable pipelines, users can easily manage genetics data for large and small studies. GenoTools' "Ancestry" module renders highly accurate predictions, allowing for high-quality ancestry-specific studies, and enables custom ancestry model training and serialization specified to the user's genotyping or sequencing platform. As the genotype processing engine that powers several large initiatives, including the NIH's Center for Alzheimer's and Related Dementias and the Global Parkinson's Genetics Program, GenoTools was used to process and analyze the UK Biobank and major Alzheimer's disease and Parkinson's disease datasets with over 400,000 genotypes from arrays and 5,000 whole genome sequencing samples and has led to novel discoveries in diverse populations. It has provided replicable ancestry predictions, implemented rigorous quality control, and conducted genetic ancestry-specific genome-wide association studies to identify systematic errors or biases through a single command. GenoTools is a customizable tool that enables users to efficiently analyze and scale genotyping and sequencing (whole genome sequencing and exome) data with reproducible and scalable ancestry, quality control, and genome-wide association studies pipelines.

Indexed as

Genome-Wide Association StudyGenotypeQuality ControlSoftwareAlzheimer DiseaseComputational BiologyGenetics, PopulationHumansParkinson Diseaseancestrygenotypeprincipal component analysis (PCA)pythonUniform Manifold Approximation and Projection (UMAP)

Identifiers

PMID39566101
PMCPMC11708233

What OpenQuestion holds

Textmetadata
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.