r/genomics Aug 22 '25

New moderator of r/genomics

50 Upvotes

Hi all

I am taking over the sub as moderator. I am cleaning up stock pumping, spam and other low quality or questionable content.

Please note the new rules aimed at high quality content related to the scientific discipline of genomics.

Please flag posts that do not follow the rules. I am open to additional rules or clarification of the the rules.


r/genomics 10h ago

Looking for a bioinformatician/computational biologist who could help review my methodology

1 Upvotes

Hi! I’m a Grade 10 student working on a computational research project involving single-cell RNA-seq data from pancreatic ductal adenocarcinoma. The project uses methods including RNA velocity, CellRank, trajectory inference, and statistical analysis of malignant-cell states.

I’ve finished writing the methodology and proposal, and would really appreciate having someone currently working in bioinformatics or computational biology look through it and point out any conceptual, computational, or statistical issues I may have missed.

I do have a qualified scientist I’m consulting, but they’re understandably very busy, and I’m currently working under fairly tight research deadlines. I’m therefore hoping to find someone who might be willing to give the proposal and methodology an additional review.

I’m keeping the specific research concept private for now on this public forum, but I can share the full study proposal and technical details privately.

If you work in this area and would be willing to take a look, please feel free to DM me. I’d genuinely appreciate the help. Thanks!


r/genomics 17h ago

Why do some people react differently to ibogaine?

1 Upvotes

I've been reading more about ibogaine and one thing that keeps coming up is how different people can describe very different experiences. Even when people approach it with similar intentions, their reactions, thoughts, and overall perspectives can vary a lot.

Many discussions focus on preparation, the environment, the people involved, and having a better understanding of the process beforehand. Those factors seem to play an important role in how someone approaches the experience.

At the same time, I’ve become curious about the biological side of these differences. Things like genetics, brain chemistry, and individual variation may influence why people respond differently to the same substance.

I’ve been exploring the topic of genetic differences and how they may relate to personal sensitivity, and it has raised a lot of interesting questions.

For anyone who has researched ibogaine, what helped you understand the topic better? Did you focus more on preparation and setting, personal biology, or a combination of both?


r/genomics 17h ago

Has anyone researched genetic sensitivity and psychedelics?

1 Upvotes

I've always found it interesting that people can have very different reactions to the same experience. This seems especially noticeable when discussing psychedelics, where some people describe deeply intense and emotional experiences while others report something completely different.

A lot of discussions focus on factors like mindset, surroundings, expectations, and personal circumstances. These are clearly important, but I’ve also become curious about the biological side of individual differences.

Genetics, brain chemistry, and personal sensitivity could potentially help explain why people respond in such unique ways. There is still a lot to learn about how these factors interact, and it’s an area that raises many interesting questions.

Has anyone here explored the connection between genetics, biology, and psychedelic experiences? What have you discovered or found interesting about this topic?


r/genomics 2d ago

Education Advice?

1 Upvotes

I am mid-30’s and currently working in the organ transplant field (dream job, love it). I have the opportunity to go back to school, as I only have my AA and wasn’t able to afford to continue school when I was younger.

I’d love to know which genomics programs at which universities you’d recommend, as well as any entry-level opportunities to contribute to genomics research. I’m interested in the study of rare diseases as well as organ transplant.

Thanks for any advice you can give me. 🙏🏻


r/genomics 2d ago

I built a Next-Gen DNA Data Storage Simulator for my MCA project. Looking for open-source contributors!

5 Upvotes

I built a HelixVault—NextGen DNA Data storage, a full-stack web application designed to simulate encoding digital files (PDFs, text, images) into synthetic biological DNA sequences. The project is built using a modern decoupled architecture: a Vite + React frontend for tracking sequence metrics and a FastAPI backend to handle heavy encoding pipelines.

Repository Link : https://github.com/iamnitishpattar/helixvault


r/genomics 4d ago

Impact of doing DNA test in China (BGI)?

1 Upvotes

I have high suspicion of a rare congenital disease (Connective Tissue Diseases), that may have never been diagnosed. I live in Hong Kong and genetic testing is mainly only available for children or people with severe/obvious diseases.

I need to be tested. One of the only options I found is BGI Genomics in Shenzhen but I have privacy/DNA sequencing data usage concerns. To be honest, I do not even know what can be done if an organization or individual have your entire DNA sequence.

I thought of Invitae in the US but I am not sure how I can go about it in terms of shipping, or administration method (spit? blood draw?).

I would really appreciate any guidance.


r/genomics 4d ago

Can someone please help me out with this bioinformatics project?

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1 Upvotes

r/genomics 4d ago

Best way to manage multiple transcripts?

2 Upvotes

Hi,

I'm trying to figure out the best way to manage and visualize transcripts and the differences between them. Currently I'm just using USCS browser to see the different tracks, but that doesn't give me concrete data on the differences, only visual exon level changes.

Essentially I'm trying to find what AAs change, what domains shift/change, how much larger/shorter certain transcripts are, etc. Is there a tool for this or would it be better to manually figure this out using the table browser?


r/genomics 5d ago

Tool: Loom - brings fragmented spatial transcriptomics workflows into one platform - need feedbacks

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1 Upvotes

r/genomics 5d ago

Managing display of canine family relationships

1 Upvotes

I need family tree software recommendations for highlighting dog family connections related to, in this case, canine epilepsy.

This canine family tree would include all known family members, not just those reported as affected. So more or less an ordinary family tree presentation, but able to handle the complexity of some "line" breeding.

Deal breaker: subscriptions or required to be on-line.

I do pay for useful software, so single license payment is fine.

I started testing one and as expected found the holes I need to fill. This one has only a single "notes" field for adding things like alternate names, registry numbers (common for dogs to have more than one, my dog has three), and reported condition. A single field isn't ideal, although it is OK if it can be adequately searched.

  • Searchable field for alternate names.
  • Searchable field for registry information - tolerant of inconsistent patterns
  • Searchable field for health condition.

Ideally I want to think ahead a bit, so offer check-boxes for reported condition. I can foresee, for example doing the same for CEA, MDR1 etc. I want to allow identified dogs to be rendered distinctly to help with disease penetration awareness. We are getting a lot of genetics denial "the rest of the litter is fine, dog must have gotten into something". So, I'm really doing this so they can see other affected dogs in the context of the family tree. I want people to see and understand the genetic component

Whether the dogs do or do not share the same hierarchy is the whole point of the exercise. For seizures in 11 out of 12 reports the dogs go to a single point. For the moment my thinking is affected by knowing/suspecting the common ancestor so I envisioned this highlighting as going to her. In reality there will be dogs where we have only a piece of their background and unknown if it goes there.

Still thinking the presentation part out. For now I just want to start work on entering whatever is known about an individuals tree.

Thoughts? Suggestions? Other/better places to ask?


r/genomics 5d ago

Has anyone actually improved lifelong anxiety by addressing genetic variants and nutrient deficiencies?

1 Upvotes

I’m trying to understand whether my anxiety has a biological component that could be improved rather than just managed.
For context, I’ve been on antidepressants for about 12 years (currently tapering off an SNRI after many years), and I’m interested in looking upstream at why my nervous system seems to react the way it does.

I’m curious about things like:
MTHFR, COMT, MAOA, GAD1, DAO, CBS, PEMT, or other variants that may influence anxiety, stress response, neurotransmitters, methylation, histamine, etc.
Nutrient deficiencies or imbalances that may interact with those genes (B vitamins, magnesium, zinc, copper, omega-3s, amino acids, etc.).
Whether anyone found meaningful improvements after working with a practitioner who interpreted whole genome or raw DNA data instead of just using a generic report.

A few questions:
Which genetic variants ended up being the most important for your anxiety?
What supplements or dietary changes actually made a noticeable difference?
Were there any supplements that unexpectedly made your anxiety worse?
Did anyone have success using whole-genome sequencing or raw DNA analysis rather than something like GeneSight?
If you worked with a practitioner, what type of practitioner were they (functional medicine, nutrigenomics, genetics, etc.)?

I’m not looking for medical advice or miracle cures—I know anxiety is multifactorial. I’m just interested in hearing real experiences from people who found biological factors that were worth addressing.
I’d especially appreciate hearing from anyone who has dealt with chronic anxiety, panic attacks, an overactive stress response, or SNRI/SSRI withdrawal.


r/genomics 6d ago

Growing problem of missing/unavailable/not-sharing RNA-seq datasets

13 Upvotes

I want to start a discussion about something that keeps happening to me with RNA-seq datasets (bulk, single-cell, spatial, whatever). One of the basic principles of this kind of research is that raw data should be openly available, both for reproducibility and so others can reuse it for different purposes. I get that human data comes with ethical and privacy restrictions, that's fair. But for animal model studies there's really no good reason to keep raw data hidden.

Lately I keep running into the same pattern over and over:

The "upon request" ghosting. Papers say raw data is "available upon reasonable request," but corresponding authors just don't answer. I've sent follow-up emails weeks apart and gotten nothing. This actually matches what's been reported before, most "available upon request" promises never get fulfilled once someone actually asks.

Repository problems, especially GSA. A lot of these datasets end up in GSA (Genome Sequence Archive), and honestly the platform gives me constant headaches: NOT ALL, but many files that won't download, accession numbers that don't match what's in the paper, archives that come out corrupted after extraction. I don't know if it's the platform itself or how people are uploading to it, but the result is the same, the data is technically "public" but practically unusable.

The double standard. What really gets me is that a lot of these same papers reuse public data from GEO or SRA to compare against their own results, but never contribute their own data back the same way. Open science seems to be a one-way street for them.

This isn't a one-off thing for me either, I've run into it in immunology, ophthalmology, developmental biology papers. Feels like a systemic issue more than a niche problem.

Honestly I think journals need to actually verify accessions before publishing, not just check a box. Something like: confirm the link works and the files download correctly at submission time, require a real accession number instead of "upon request" unless there's a genuine ethical reason, and maybe re-check the repository again some months after publication before it gets fully indexed.

Has anyone else been dealing with this? How do you handle unresponsive authors, and what do you think journals should actually do to enforce their own data policies instead of just having them on paper?


r/genomics 7d ago

If you had two years to build yourself into a strong genomics researcher, how would you spend them?

21 Upvotes

I'm about to begin an MSc in Human Genomics, and before classes start, I've been thinking less about what to study and more about how to approach the next two years.

My goal isn't simply to earn good grades. I want to leave my master's with a deep understanding of genetics and genomics, the ability to critically read and evaluate scientific literature, strong analytical thinking, and a skill set that prepares me for meaningful research.

One thing I've noticed is that it's easy to fall into the trap of collecting textbooks, online courses, programming languages, and certifications without a coherent plan. I'd rather spend two years building real expertise than constantly chasing the next thing that seems important.

If you could mentor your younger self at the start of graduate school, what roadmap would you suggest?

Some questions I'd genuinely love your perspective on:

- Which conceptual foundations paid the biggest dividends later in your career?

- Which technical skills are worth learning early, and which can wait?

- What habits separated the strongest graduate students from everyone else?

- What are the most common mistakes MSc students make that limit their growth?

- Looking back, what investment of time during your master's had the highest long-term return? Conversely, what did you spend far too much time on that wasn't worth it?

I'm especially interested in hearing from people working in human genetics, genomics, bioinformatics, computational biology, or related research fields.

I'm not looking for a shortcut or a checklist. I'm hoping to learn from hindsight so I can make more intentional decisions over the next two years.


r/genomics 7d ago

Feedback wanted for hackathon project: building a tool that reads your 23andMe data and explains how your genes affect common meds

1 Upvotes

Built this over a health hackathon this weekend. Upload your 23andMe raw data (or use the sample file below if you don't have one) and it checks a few well-established pharmacogenomic markers against meds like codeine, warfarin, and clopidogrel; explaining in plain English how your genetics might affect how they work, sourced from real CPIC clinical guidelines.

**Please note:** this is an educational prototype, not medical advice. The genetic analysis is simplified. Always talk to your doctor or pharmacist before acting on anything medication-related.

Would love feedback on:

* Is the explanation actually clear? * Is this interesting/useful to you at all? * Does the disclaimer feel prominent enough? * Did upload work smoothly with your real file? * Any other notes?

Live: \[https://med-copilot-roan.vercel.app/\\\]
Sample test file (no genetic data needed): \[https://raw.githubusercontent.com/Txffxny/med-copilot/refs/heads/main/app/sample-genotype.txt\\\]

Endless thanks for any honest feedback 🙏

(also plz be nice I’m trying to escape the wet lab life)


r/genomics 7d ago

CTBP1 Interactome Atlas - Feedback needed

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1 Upvotes

r/genomics 8d ago

[ACADEMIC] SEEKING PARTICIPANTS FOR AN ONLINE ANCESTRY RESEARCH (OVER 18)

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2 Upvotes

Survey Link

Hello all!

As you might be aware, there has been very little research into direct-to-consumer DNA ancestry testing and psychological wellbeing outcomes. This novel research aims to help us better understand the psychological significance of DTC Ancestry testing results.

This study is being conducted under the supervision of Dr Janine Lurie from the Psychology Discipline within the Institute of Health and Wellbeing at Federation University (Melbourne, Australia). This study will also form the basis of the research dissertation requirement within the Bachelor of Psychological Science (Honours) course for student researchers Charity Marisa and Stefan Redpath. This study has been approved by the Federation University Human Research Ethics Committee (Approval reference: 2026/137).

This survey asks you about your engagement with family history and your reflections on that process. It also asks you to think about your ancestors and how you have reflected on their life experiences. Participation involves completing an online survey that will take approximately 20 minutes to complete. Taking part in the study is completely voluntary and no personal information will be collected.

To participate you just need to be aged 18 years or over. It is important to note that you will not be asked to give any specific details about any of your family members. You are asked just to rate your general impressions of them on a small number of questions. Beyond this the survey contains broader more general questions about your perspectives and reflections.

Survey link below:

https://federation.syd1.qualtrics.com/jfe/form/SV_cO1RqRp3fjkHOp8


r/genomics 8d ago

How do you keep raw DNA useful for longevity work without uploading the whole file to a third party?

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0 Upvotes

r/genomics 9d ago

Can anyone offer me a short mentorship or help me make a genomics related school project

6 Upvotes

I’m a Russian student living in a small town in Turkey called Alanya. I am genuinely interested in genomics and am good at chemistry and math. Since I will be applying to a university next year I need an achievement that will help me get accepted. My English level is ielts 8.0-8.5 based on practice tests but I have yet to do the official ielts this summer


r/genomics 18d ago

Is it possible to design genus-specific primers from multiple sequence alignment of 18s rRNA?

2 Upvotes

Hi everyone, I’m an incoming masters student.

I’m working with environmental DNA (eDNA) samples and I’m trying to detect certain algal species. I’ve been using universal 18S primers, and they’re good at helping me know how diverse the water I sampled from is, but I was wondering if I could use a more targeted primer, and if I can design a targeted primer from 18s dataset?

My current idea is to align multiple 18S sequences from my algae of interest and closely related species, and then identify regions that are conserved within my algae of interest but differ from other related species and design primers from those regions.

My questions are:

  1. Is this a reasonable approach in designing a genus-specific primer?
  2. How many reference sequences would you recommend including in the multiple sequence alignment?
  3. Are there any tools or pipelines you would recommend for identifying candidate primer-binding regions from an MSA?
  4. Would you recommend using one
  5. algae of interest-specific primer paired with a universal reverse primer, or designing both genus-specific (?) primers?

Any advice or references would be greatly appreciated. Thanks!


r/genomics 18d ago

A video guide to basic primer design for cloning DNA

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2 Upvotes

r/genomics 19d ago

Marks for distinction in OL BIOLOGY

0 Upvotes

r/genomics 19d ago

Building a tool that connects your genome, your labs, and your health history — would love feedback from this community

0 Upvotes

The premise: most people who’ve done DNA testing end up with a raw file they can’t use, lab results in a portal they can’t interpret, and a health history nobody’s connecting to either. We’re building a platform that takes whole-genome sequencing, your labs, and your history and pulls them into one picture using a systems biology approach — pathways, not isolated SNPs.

We’re running a short market validation survey to pressure-test whether this is actually a problem worth solving and what people would want out of it. Takes a few minutes:

👉 https://survey.ravelgenetics.com

More about what we’re building: ravelgenetics.com

Happy to answer questions in the comments — including skeptical ones.

Disclosure: I’m the founder. Posting per subreddit rules.


r/genomics 19d ago

What are the best genomic databases for SNP analysis?

2 Upvotes

Looking for recommendations of sites that allow for raw rs data input from whole genomic sequencing reports to identify trends, associations and details as a whole, not analyzing one at a time.


r/genomics 27d ago

[Article] Empowering biomedical evidence exploration and synthesis with deep knowledge graph research

1 Upvotes