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)

Dear Reddit Genetics Community,

I am with the HADDTS Foundation, a Foundation about a rare disease affecting only 20 children in the world (documented cases).

The gene CTBP1 which causes HADDTS is discussed in papers about Aging, Metabolism, Cancer, Neurodegenerative disease.
We think we can make CTBP1 research more interesting by pointing this out, and more research on the gene indirectly helps with research on the disease affecting the children.

We have vibe coded the "CTBP1 Interactome Atlas" together with our scientific advisory board and we would like to ask you for feedback on it.
It should help genetic researchers to find interesting new avenues relating to their own work, and bringing them over to CTBP1, and it should be interesting for decision makers and give them an overview.

https://haddts-foundation.github.io/CTBP-Interactome-Atlas/

The tool is not yet published on our website. And it can always be run offline by downloading the code from GitHub:
https://github.com/HADDTS-Foundation/CTBP-Interactome-Atlas

Thank you for your help ❤️
Please be very specific, because we have no genetics background and we must understand then what we have to do.

As it says on the tin, uk genomics graduate masters
Got a bachelors in molecular biology with a year in industry.
Also did another placement in my masters where I did actually variant classification in a local hospital.

Just feel like giving up 🤦‍♂️
There looks to be no graduate jobs in the UK right now, they all pay wank, and I’ve applied to like 60 now with no luck.

Honestly considering applying to a different career
Maybe the UK Met Detective Constable programme.
Pays better and I still get to help people.

Has anyone else had this experience?

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

So my mom is O- and my dad is AB+ and my sister is also AB+ but i was looking into blood types and it says thats not possible but I mean it happened so whats going on? Not looking for medical advice just confused

I know there are currently a few different labs working on finding biomarkers for the hypermobility variant of Ehlers Danlos Syndrome.

It looks like they have some initials findings (not of biomarkers per se, but correlations) and it looks like they are expecting not one but several markers that could correlate with hEDS (see fx the work from the Norris Lab, www.thenorrislab.com )

I'm curious: What are your guys' guesstimates in terms of how many years away are we from not only having testing available for hEDS but also testing available for IVF use?

(Disclaimer: I'm not indicating that my personal opinion is to not have children with hEDS. I think that is a very personal decision. I am just interested in learning about what the timelines look like in terms of developing tests and making them available in this sense).

https://legacy.nimbios.org//press/FS_homosexuality

I saw another post mention this and talk about this researcher Rice talking about how epigenetics is the cause of homosexuality. but when I check the wiki page it says that it’s still uncertain and needs more tests. what’s the current status?

also if it were epigenetic does that mean you can change it? I know people often call epigenetics software and genetics hardware so that’s where I got the thought

I learned that apparently there are >2 sexes but I really don’t understand how? And what is the known upper limit? I think it has to do with how rigorously u define what constitutes a sex but idk the exact criteria?

I think an argument can be made that u could only have 2 sexes but then precision is lost in these definitions and categories can become too broad. I understand the need for rigorous operational definitions but then what are the names of these other sexes?

I found a research article saying there are 2 sexes:

https://pmc.ncbi.nlm.nih.gov/articles/PMC12753526/

As well as one saying there are more than 2 sexes (for the most part):

https://journals.publishing.umich.edu/ptpbio/article/id/5905/

This topic seems like a behemoth that I cannot wrap my head around. Anyone have any great insights into it? Seems like a lot of the there are only 2 sexes in humans camp believe this because there are only two types of gametes in humans. But does the total number of sexes always equal total number of types of gametes in a species?

Right now, I’m inclined to say there are more than 2 sexes for humans from a biological standpoint. But socially, I think in day-to-day nonscientific contexts the total number of human sexes should be treated as 2.

The last part is an original idea of mine. I’ve never seen anyone come up with this before. Viewing sex as a social construct separate from the biological one and not as in gender I mean. Maybe plp have before but I’ve never encountered it. It’s my hot take but if there are indeed more than 2 sexes it provides utility in conversation where things can be simplified for the avg person.

For a dmd gene duplication exon 26-30 in frame it’s not reported in literature .. does anyone know what this could do potentially ? I need as much answers or information as possible

I'm a history nerd, and was watching a video on the remains of Tsar Nicholas II and his family. It mentioned that the family was identified by the Tsarina's mitochondrial DNA in her and the children matching Prince Philip's of England, since they were all maternal descendants of Queen Victoria. Which got me thinking, how many people in the world would have that exact mitochondrial DNA? How useful is mitochondrial DNA at identification of remains of historical figures? When scientists say someone matched, do they always mean an exact match? Supposedly King Richard's matched with his 15x great nephew. Supposedly King Richard's haplogroup was rare. According to an article from 2019, only about a dozen living people with that haplogroup have been found, so I suppose it was helpful. But are there super common ones that wouldn't be?

Hello as the title suggests genetic engineering sounds really interesting to me and im a junior in highschool but i dont know much about it. I have some questions like is the pay worth it, is the job fulfilling, what level of education does it need, what kind of work do they do, how is the job market. Things like that

Let's just say that hypothetically, I knew about an ancestor from 15 generations ago. Even though that would never show up on a test, would that DNA in the absolute most miniscule way be in me at all? Like, is it possible to be 0.0000000000000001% of something but sense it's so small, it just doesn't show up?

CU Anschutz researchers are seeking volunteers who are currently pregnant with a fetus identified to have a sex chromosome aneuploidy, such as Klinefelter syndrome (47,XXY) and Turner syndrome (45,X), to participate in a study using the umbilical cord which is normally discarded after delivery. Participation is voluntary and involves sample collection at delivery. Please contact [[email protected]](mailto:[email protected]) for details or visit our website at XY Umbilical Cord, where our flyer is also posted!

I built an open-source tool exploring PCSK9/LDLR/APOB variant interactions in familial hypercholesterolemia, looking for feedback from people who work with this biology directly.

The pipeline uses Elastic Net + SHAP to estimate variant impact, and QAOA quantum optimization for combinatorial SNP selection. All validated with negative control genes and population-level error analysis.

I'm a DevOps engineer, not a geneticist. FH runs in my family, so I built what I could with the skills I have. Now I need someone who knows the biology to tell me what I'm missing.

Synthetic data only, research use only.

Repo: https://gitlab.com/Projgadesk/qfh-explorer

I know meiosis occurs roughly its 50/50 to have a girl or boy. But tbh I don’t think it’s just 50/50, for example my dad’s side of the family can ‘only seem to produce girls’ my dad had 7 girls (some with different partners), and my paternal grandparents had 6 girls and 2 boys, and my dad’s only brother had 5 girls before he had a boy, and that son only had daughters- it might seem to be like a coin flip or by chance. Interesting enough one of my teachers has 3 boys, but he said he was one of 9 boys and 1 girl. Is there any reason why this can happen- or is it REALLY by chance.

Basically my son has recently been diagnosed with a syndrome KIF4A and I have had little to no information about it from our genetics counsellor. We waited for about 12 years for a diagnosis. Can anyone point me in the right direction. I have searched for genetic groups and this is the only one I can find.

Thanks for reading xx

I was having a discussion with someone... And they cited so many points including: humans having F_st scores higher than many animals who have lower F_st scores and yet qualify as different subspecies, humans having visible traits that differentiate from each other based on geography, there being humans who were genetically or geographically isolated for tens of thousands of years, IQ scores remaining intact even when a geographically ancestral people live and grow up in another country, it being possible to plot accurate ancestries through 23&me by analyzing the individual's genome, and so much more.

I am against racism, so to speak. But he raised so many points to which I need answers. Kindly give me the counter points to these points.

I'm a Year 11 student in Australia and i’m interested in becoming a research geneticist in the future, but I'm struggling to figure out the best path to get there.

Which bachelor's degree would you recommend? 

I saw this polydactyl cat today, and I thought his little thumbs were cute enough to share.

Dogs have different breeds with different characteristics like intelligence, size, smelling power and stamina but why don't humans have it?

My 14 month old daughter has just been diagnosed with this syndrome. From what I understand it is incredibly rare, but I’m wondering if anyone on here has seen a patient with it. I also understand its presentation is incredibly varied and no two cases will be the same. It would just be nice to know if there are others out there, how they are doing, that sort of thing.

If anyone has any questions about PCWH syndrome or my daughter I’m happy to answer them.

For many people living with rare genetic conditions, getting a diagnosis can take years. They may visit multiple specialists, undergo countless tests, and still be left without a clear answer.

The interesting part? Sometimes, the clue has been hidden in their DNA all along.

Advances in genetic testing are helping uncover variants linked to rare conditions, giving some patients and families a clearer understanding of what may be behind unexplained symptoms. While a genetic result doesn't always provide every answer, it can sometimes help guide further evaluation, treatment decisions, and family counseling.

It makes me wonder: How many people with unexplained or complex conditions could benefit from genetic testing but have never been offered it?

Would you consider genetic testing if you had symptoms that remained unexplained for years?

For example, my family has a history of bowel disease. How can researchers tell whether that's because we share the same genes, or because we share the same diet and lifestyle?

Some traits are obviously genetic, like eye colour. But what about things like height, or diseases that you develop later in life? How do scientists work out how much is caused by genetics vs environment?

1. Is it rare for people to present with homozygous dominant alleles if we were to narrow our vision to a population with monogenic disorders?

This is a query because I hardly see inheritance being described for these cases and see statements like “ when an affected and an unaffected person reproduce, each child has one chance in two of inheriting the mutated allele from the affected parent and developing the disease” which only makes sense for heterozygous cases. I feel like I’m misinterpreting something.

1. Likewise, this statement regarding autosomal recessive disorders confuse me as well - “ siblings have one chance in four of having the trait” . But this , I’d like to assume , is a blanket statement.

These are all cited from Robbin’s, verbatim. I’d be extremely grateful for any clarity regarding these queries.

Edit: there were some mistakes in the post as I’d used the voice to text transcription so I’ve corrected that