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Related Experiment Video

Updated: Jul 29, 2025

Comprehensive Workflow for the Genome-wide Identification and Expression Meta-analysis of the ATL E3 Ubiquitin Ligase Gene Family in Grapevine
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GRAPE: genomic relatedness detection pipeline.

Alexander Medvedev1,2, Mikhail Lebedev2, Andrew Ponomarev2

  • 1Skolkovo Institute of Science and Technology, Moscow, Russian Federation.

F1000Research
|May 24, 2023
PubMed
Summary

We developed GRAPE, a Genomic RelAtedness detection PipelinE, to accurately classify genetic relatedness. This open-source tool addresses the need for a fast, reliable solution for genomic data analysis in research and commercial applications.

Keywords:
bioinformatics pipelinegenetic testing companiesgenotypeidentity-by-descentkinship and relationship estimationphasing and imputationsequencing datasnakemake workflow

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Area of Science:

  • Genomics
  • Bioinformatics
  • Computational Biology

Background:

  • Accurate relatedness classification is crucial for genomic studies like Genome-Wide Association Studies (GWAS) and genetic linkage analysis.
  • Unrecognized population structure can lead to false positives in GWAS, impacting research validity.
  • The direct-to-consumer genetic testing market relies on accurate DNA relative matching services.

Purpose of the Study:

  • To develop an open-source, end-to-end pipeline for detecting genomic relatedness.
  • To provide a fast, reliable, and accurate solution for both close and distant kinship.
  • To integrate necessary processing steps for real-world genotypic data and production readiness.

Main Methods:

  • Developed GRAPE (Genomic RelAtedness detection PipelinE), an integrated pipeline.
  • Incorporated data preprocessing, Identity-by-Descent (IBD) segment detection, and relationship estimation.
  • Utilized software development best practices and Global Alliance for Genomics and Health (GA4GH) standards.

Main Results:

  • Demonstrated pipeline efficiency on both simulated and real-world genomic datasets.
  • GRAPE provides a comprehensive solution for genomic relatedness detection.
  • The pipeline is ready for production integration.

Conclusions:

  • GRAPE addresses the current gap for an open-source, production-ready relatedness detection pipeline.
  • The tool enhances the accuracy and reliability of genomic data analysis.
  • GRAPE facilitates advancements in genetic research and commercial applications.