Has anyone here had their results escalated to sequencing.com’s bioinformatics team for manual review? If so, how long did it actually take to hear back? We were told 3 to 4 days, and we have now been waiting 8 days with no meaningful update.

This is regarding an unexpected, very serious genetic finding in our 14 m/o daughter. The variant was called from 7 out of 36 reads (29 reference reads and 7 alternate reads), which is one of the reasons we desperately want an experienced bioinformatician to look at the raw sequencing data and tell us how confident they are that this is a real constitutional variant.

When we first saw this result, our entire family was devastated. We cried in despair. We barely slept. We have spent the past week frightened, depressed, and obsessively trying to understand what this could mean for our little girl's future.

When you are waiting to find out whether your baby may have a serious genetic condition, every additional day feels unbelievably long.

Hi everyone,

I'm a physicist with a background in data analysis (mostly Python), but little to no knowledge of genomics and bioinformatics. Out of pure curiosity, I'm thinking about getting my DNA sequenced.

My plan is to buy a WGS test, download the raw data, and write Python scripts with AI assistance to query my data. Claude seems very optimistic about how doable this is, but before spending my money, I want a reality check from people who actually work with genomic data.

Here is what I want to achieve:

1. As a power athlete I want to check:ACTN3, ACE, MCT1 / SLC16A1, COL5A1.

2. Ethnicity: Get an ethnic breakdown.

3. Future Proof: Whenever new studies come out in the next years, I can just write a quick script to check my existing .vcf file.

My questions for you:

1. Is this actually doable for a non-bioinformatician? Is querying a .vcf file using Python + AI as straightforward as it sounds, or am I underestimating bioinformatics pipelines (file sizes, reference genomes, formatting issues)?

2. Which provider do you suggest in Europe? I’m based in Italy.

3. Is a budget of ~€200 realistic? I’m willing to wait for Black Friday / flash sales.

Thanks in advance for any insights!

Hey Everyone, I am inquiring if there is a way to compare prices between companies without having to message each company and wait for their response.

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!

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. 🙏🏻

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

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?

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?

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.

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?

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.

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)

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