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Signed-off-by: Piyush Acharya <acharyapiyush1@outlook.com>
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VerisimilitudeX authored Jan 20, 2025
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**DNAnalyzer** is a fiscally sponsored 501(c)(3) nonprofit organization (EIN: 81-2908499) dedicated to revolutionizing the field of DNA analysis. We aim to democratize access to DNA analysis tools for a deeper understanding of human health and disease and pushing the boundaries of what is possible in the field of genetics research to make a significant impact in the industry. It was created by [Piyush Acharya](github.com/VerisimilitudeX) and is currently led by him and [@LimesKey](github.com/LimesKey).

## Summary
DNAnalyzer is your gateway to deciphering the secrets of DNA. Our innovative AI-powered analysis and interpretive tools empower geneticists, physicians, and researchers to gain deep insights into DNA sequences, revolutionizing how we understand human health and disease.

[![Open in GitHub Codespaces](https://github.com/codespaces/badge.svg)](https://github.com/codespaces/new?hide_repo_select=true&ref=main&repo=519909104&machine=largePremiumLinux&location=WestUs&skip_quickstart=true&geo=UsWest)
[![Model in Hugging Face](https://huggingface.co/datasets/huggingface/badges/resolve/main/sign-in-with-huggingface-xl-dark.svg)](https://huggingface.co/DNAnalyzer)
<a href="https://www.producthunt.com/posts/dnanalyzer?utm_source=badge-featured&utm_medium=badge&utm_souce=badge-dnanalyzer" target="_blank"><img src="https://api.producthunt.com/widgets/embed-image/v1/featured.svg?post_id=401710&theme=dark" alt="DNAnalyzer - Revolutionizing&#0032;AI&#0045;powered&#0032;accessible&#0032;DNA&#0032;analysis | Product Hunt" style="width: 250px; height: 54px;" width="250" height="54" /></a>

## Table of Contents

- [DNAnalyzer](#dnanalyzer)
- [Summary](#summary)
- [Table of Contents](#table-of-contents)
- [Background](#background)
- [Features](#features)
- [Quick Introduction to DNA](#quick-introduction-to-dna)
- [DNA](#dna)
- [Databases](#databases)
- [Getting Started](#getting-started)
- [Future Support and Improvements](#future-support-and-improvements)
- [Optimized SQL Database for Genomic Data](#optimized-sql-database-for-genomic-data)
- [Improved Neural Network for Genotyped Data](#improved-neural-network-for-genotyped-data)
- [DIAMOND Implementation, a BLAST fork](#diamond-implementation-a-blast-fork)
- [Citations](#citations)
- [Contributing](#contributing)
- [Terms of Use](#terms-of-use)

<a href="https://github.com/codespaces/new?hide_repo_select=true&ref=main&repo=519909104&machine=largePremiumLinux&location=WestUs&skip_quickstart=true&geo=UsWest" target="_blank">
<img src="https://github.com/codespaces/badge.svg" alt="Open in GitHub Codespaces" style="height: 35px; width: auto; vertical-align: middle;" />
</a>

## <a name="background"></a>Background
<a href="https://huggingface.co/DNAnalyzer" target="_blank">
<img src="https://huggingface.co/datasets/huggingface/badges/resolve/main/sign-in-with-huggingface-xl-dark.svg" alt="Model in Hugging Face" style="height: 35px; width: auto; vertical-align: middle;" />
</a>

Currently, the average cost of getting access to an individual's DNA sequence is $100. On top of that, most personal genomics providers charge up to $600 to gain access to (largely) machine-generated insights such as carrier status, health predisposition, wellness reports, and traits analyses [[1](https://customercare.23andme.com/hc/en-us/articles/115013843028-What-Health-Related-Information-Can-I-Learn-From-23andMe)]. This ends up restricting these valuable health insights from communities that need it the most.
<a href="https://www.producthunt.com/posts/dnanalyzer?utm_source=badge-featured&utm_medium=badge&utm_souce=badge-dnanalyzer" target="_blank">
<img src="https://api.producthunt.com/widgets/embed-image/v1/featured.svg?post_id=401710&theme=dark" alt="DNAnalyzer on Product Hunt" style="height: 35px; width: auto; vertical-align: middle;" />
</a>

At the same time, there are numerous privacy risks associated with direct-to-consumer genetic testing companies. Unlike your credit card number or your bank account password, if your genetic information is stolen or simply given away without your consent by a company that possesses it, it can’t be changed. Few federal and state laws regulate what companies must do to keep genetic data private and secure. The Genetic Information Nondiscrimination Act (GINA) prevents employers from discriminating against you on the basis of your genetic information. But it doesn’t say anything about what a third-party DTC genetic testing company can do with the information it collects about you. Also, importantly, GINA’s protections apply only if a person is displaying no symptoms of their genetic condition, says Ellen Clayton, J.D., M.D., a professor of health policy at Vanderbilt University Medical Center in Nashville, Tenn. If a person becomes symptomatic, GINA’s protections against discrimination no longer apply. Under the Affordable Care Act (ACA), health insurance companies cannot refuse coverage or charge more for coverage based on a preexisting condition—a prohibition that also applies to any condition discovered as the result of genetic testing. That means the companies that provide these services have the freedom to control what happens to a consumer’s genetic information once they receive it, Brookman says. Some companies also encourage consumers to provide additional sensitive family or health information in order to maximize the possible insights from the genetic tests being offered.
## <a name="background"></a>Background

In one 2018 study of DTC genetic testing companies’ privacy policies, Vanderbilt University researchers found that 71 percent of companies used consumer information internally for purposes other than providing the results to consumers. Sixty-two percent said they use data for internal research and development, while 78 percent said they provided genetic information to third parties in de-identified or aggregate forms without additional consumer consent. There are also few laws regulating how consumers’ genetic data should be stored and protected by the companies that collect it, and genetic testing companies have experienced data breaches. For example, the DTC genetic testing company MyHeritage was hacked in 2018, and users’ emails and scrambled passwords were stolen. Their DNA information wasn’t stolen, but such a breach is certainly possible, CR experts say.
Currently, the average cost of accessing an individual's DNA sequence is approximately $100 [[1](https://www.genome.gov/about-genomics/fact-sheets/Sequencing-Human-Genome-cost)]. On top of that, most personal genomics providers charge up to $600 for insights such as carrier status, health predisposition, wellness reports, and traits analyses [[2](https://customercare.23andme.com/hc/en-us/articles/115013843028-What-Health-Related-Information-Can-I-Learn-From-23andMe), [3](https://umatechnology.org/how-much-does-a-dna-test-cost-in-2025-compare-prices)]. This restricts these valuable health insights from reaching the communities that need them most.

At DNAnalyzer, we believe that access to personalized
At the same time, there are significant privacy risks associated with direct-to-consumer genetic testing companies. Unlike a credit card number or password, stolen or misused genetic information cannot be changed. A 2018 study by Vanderbilt University found that 78% of DTC genetic testing companies shared genetic information with third parties in de-identified or aggregate forms without additional consumer consent [[4](https://link.springer.com/chapter/10.1007/978-3-030-71352-2_14)]. Few laws regulate how genetic data should be stored and protected, and companies have experienced data breaches. For example, in 2023, 23andMe suffered a data breach where hackers accessed the genetic information of 6.9 million users, demonstrating an urgent need for tools such as DNAnalyzer [[5](https://arstechnica.com/tech-policy/2023/12/hackers-stole-ancestry-data-of-6-9-million-users-23andme-finally-confirmed)].

[UNFINISHED 1/15 12:36 PM)
By enabling secure, on-device genomic data analysis with no costs for consumers, DNAnalyzer aims to mitigate these risks while making insights more accessible to underserved communities.

## <a name="features"></a>Features

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## Terms of Use

Your complete responsibility lies in the utilization of this application, encompassing all actions and consequences that arise. While the DNAnalyzer Team is dedicated to addressing significant issues that may arise, whether reported by users or as new research unfolds, they cannot be held accountable for any losses users may experience due to the application's use, irrespective of circumstances. For further inquiries, please reach out to the following email address: help@dnanalyzer.org.
The use of this application is entirely at your own discretion and responsibility, including all actions and outcomes that may result. While the DNAnalyzer team is committed to addressing significant issues reported by users or identified during ongoing research, we disclaim any liability for losses, damages, or other consequences arising from the use of this application, regardless of the circumstances. For any questions or concerns, please contact us at help@dnanalyzer.org.

If you utilize this software in your research, we kindly request that you provide an appropriate citation. You may use the following formats:

**APA Citation:**

```apa
Acharya, P. (2022). DNAnalyzer: ML-Powered DNA Analysis Platform (Version 3.5.0-beta.0) [Computer software]. https://doi.org/10.5281/zenodo.14556577
```

**BibTeX Citation:**

If you use this software in your research, we request that you provide the appropriate citation.
```bibtex
@software{Acharya_DNAnalyzer_ML-Powered_DNA_2022,
author = {Acharya, Piyush},
doi = {10.5281/zenodo.14556577},
month = oct,
title = {{DNAnalyzer: ML-Powered DNA Analysis Platform}},
url = {https://github.com/VerisimilitudeX/DNAnalyzer},
version = {3.5.0-beta.0},
year = {2022}
}
```

Copyright © Piyush Acharya 2024. DNAnalyzer is a fiscally sponsored 501(c)(3) nonprofit (EIN: 81-2908499). Licensed under the MIT License.
Copyright © Piyush Acharya 2025. DNAnalyzer is a fiscally sponsored 501(c)(3) nonprofit organization (EIN: 81-2908499) and is licensed under the MIT License.

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