Evidence map›Paper›PMID 36847450›Full record

ArticleBioinformatics (Oxford, England)2023

Haptools: a toolkit for admixture and haplotype analysis.

Arya R Massarat, Michael Lamkin, Ciara Reeve, Amy L Williams, Matteo D'Antonio, Melissa Gymrek

Abstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing 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

9 citing papers in PubMed.

  1. Article
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  6. Interpreting SNP heritability in admixed populations.bioRxiv : the preprint server for biology · 2025
    Article
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  8. Article
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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.

Arya R MassaratBioinformatics and Systems Biology Graduate Program, Department of Bioengineering, University of California San Diego, La Jolla, CA 92093, USA.ORCID 0000-0002-3679-0345
Michael LamkinDepartment of Computer Science and Engineering, University of California San Diego, La Jolla, CA 92093, USA.
Ciara ReeveDepartment of Bioengineering, University of California San Diego, La Jolla, CA 92093, USA.
Amy L Williams23andMe, Inc., Sunnyvale, CA 94086, USA.ORCID 0000-0003-0737-0533
Matteo D'AntonioDepartment of Biomedical Informatics, Department of Medicine, University of California San Diego, La Jolla, CA 92093, USA.
Melissa GymrekDepartment of Computer Science and Engineering, University of California San Diego, La Jolla, CA 92093, USA.ORCID 0000-0002-6086-3903

Funding

Scalable methods for the characterization and analysis of families in large genomic datasetsR35GM133805 · NIGMS · CORNELL UNIVERSITY · PI WILLIAMS, AMY LYNNE · 2019 to 2023
$1.6M
NIH HHS R35GM133805
6 · The paper itself

Abstract

summaryLeveraging local ancestry and haplotype information in genome-wide association studies and downstream analyses can improve the utility of genomics for individuals from diverse and recently admixed ancestries. However, most existing simulation, visualization and variant analysis frameworks are based on variant-level analysis and do not automatically handle these features. We present haptools, an open-source toolkit for performing local ancestry aware and haplotype-based analysis of complex traits. Haptools supports fast simulation of admixed genomes, visualization of admixture tracks, simulation of haplotype- and local ancestry-specific phenotype effects and a variety of file operations and statistics computed in a haplotype-aware manner. AVAILABILITY AND IMPLEMENTATION: Haptools is freely available at https://github.com/cast-genomics/haptools. DOCUMENTATION: Detailed documentation is available at https://haptools.readthedocs.io. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Indexed as

Genome-Wide Association StudySoftwareGenomeGenomicsHaplotypes

Identifiers

PMID36847450
PMCPMC9991497

What OpenQuestion holds

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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.