Science Score: 67.0%

This score indicates how likely this project is to be science-related based on various indicators:

  • CITATION.cff file
    Found CITATION.cff file
  • codemeta.json file
    Found codemeta.json file
  • .zenodo.json file
    Found .zenodo.json file
  • DOI references
    Found 6 DOI reference(s) in README
  • Academic publication links
    Links to: zenodo.org
  • Academic email domains
  • Institutional organization owner
  • JOSS paper metadata
  • Scientific vocabulary similarity
    Low similarity (12.0%) to scientific vocabulary
Last synced: 6 months ago · JSON representation ·

Repository

Basic Info
  • Host: GitHub
  • Owner: RafPrograms
  • License: gpl-3.0
  • Language: C++
  • Default Branch: main
  • Size: 917 KB
Statistics
  • Stars: 0
  • Watchers: 1
  • Forks: 0
  • Open Issues: 0
  • Releases: 1
Created 10 months ago · Last pushed 7 months ago
Metadata Files
Readme License Citation

README.md

HaploGI – Haplotyping Given Inheritance

Pedigree-Based Haplotyping\ Version 1.0.0


Author

Rafael A. Nafikov\ Division of Medical Genetics, Department of Medicine\ University of Washington

Last modified on: June 28, 2025


Contents


Introduction

HaploGI (Haplotyping Given Inheritance) performs pedigree-based haplotyping of Whole Genome Sequencing (WGS) data and determines haplotype sharing between subjects from a specified group of cases.


Paper Citation

If you use HaploGI in your work, please cite:

Nafikov, R. A., Sohi, H., Nato Jr, A. Q., Horimoto, A. R., Bird, T. D., DeStefano, A., Blue, E. E., & Wijsman, E. M.\ Variant prioritization by pedigree-based haplotyping. Submitted for publication to Genetic Epidemiology, 2025.


Software Citation

If you use HaploGI in your research, please also cite the following:

📦 Software

DOI

bibtex @software{nafikov_2025_haplogi, author = {Rafael A. Nafikov}, title = {HaploGI - Haplotyping Given Inheritance}, version = {1.0.0}, year = 2025, publisher = {Zenodo}, doi = {10.5281/zenodo.15860913}, url = {https://doi.org/10.5281/zenodo.15860913} }

This repository includes a CITATION.cff file. On GitHub, you can click the “Cite this repository” button near the top of the page to view citation information in multiple formats (BibTeX, EndNote, RIS, etc.).


License

HaploGI is a C++ program released under the GNU General Public License v3.0.\ See LICENSE for full terms.

© 2025 Rafael A. Nafikov


Software URL

HaploGI source code is available at:\ 👉 https://github.com/RafPrograms/HaploGI/tree/main/src

HaploGI documentation and a parameter file template to run the program are available at:\ 👉 https://github.com/RafPrograms/HaploGI/tree/main/docs


Data Example

Downloadable ZIP with example input/output for each run option is available at:\ 👉 https://github.com/RafPrograms/HaploGI/tree/main/data_example


HaploGI Utility Scripts

A number of Python utility scripts are available to assist with preparing HaploGI input files, processing output data, and visualizing results, at:\ 👉 https://github.com/RafPrograms/HaploGI/tree/main/HaploGI_utility_scripts


Support

For questions, bug reports, or suggestions, please contact:\ 📧 nrafscience\@gmail.com\ 🔗 GitHub Issues

Owner

  • Name: Rafael Nafikov
  • Login: RafPrograms
  • Kind: user

Citation (CITATION.cff)

cff-version: 1.2.0
message: >
  If you use this software, please cite it using the metadata below. 
  Also consider citing our paper, listed in the README.
type: software
title: "HaploGI - Haplotyping Given Inheritance"
version: "1.0.0"
doi: 10.5281/zenodo.15860913
date-released: 2025-07-08

authors:
  - family-names: Nafikov
    given-names: Rafael A.
    orcid: https://orcid.org/0000-0001-7288-0981

license: GPL-3.0-only
repository-code: https://github.com/RafPrograms/HaploGI
url: https://github.com/RafPrograms/HaploGI
abstract: >
  HaploGI (Haplotyping Given Inheritance) is a software package developed for 
  pedigree-based haplotyping of whole-genome sequencing (WGS) data and determination 
  of haplotype sharing between subjects. It aims to identify risk haplotypes within 
  linkage regions and disease-associated variants carried on those haplotypes. 
  This version (v1.0.0) is associated with our 2025 presubmission to the journal 
  Genetic Epidemiology (Nafikov et al., 2025).

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