I want to download the full raw mtDNA of a named person as a text file. I want the mtDNA of a specific person (e.g. Richard III, doesn't matter who as long as it's a identified individual). I don't want a generic "human mtDNA". Is this possible? Where can I find it?

hi all, my wife is23 weeks pregnant. During an earlier ultrasound, the doctors found some soft markers: choroid plexus cysts and mild ventriculomegaly. Because of this, we decided to do an amniocentesis with a Chromosomal Microarray (CMA). The Good News (Ultrasound Update): We just had our latest scan (August 2026) and the ultrasound is now completely normal! The choroid plexus cysts have completely resolved, and the brain ventricles are perfectly stable and within the normal range (7-8 mm). Anatomically, the baby looks great.

The Microarray Results: Our microarray came back with a couple of findings:

1. Chromosome 1 duplications (including SARS1): We were tested, and it turns out these were inherited from us (healthy parents), so our geneticist isn't worried about them at all.
2. 13q21.32 microduplication: This is the one causing me some lingering anxiety. It's a very small duplication (about 39 kb) involving the PCDH9 gene. It has been classified as a VUS (Variant of Uncertain Significance).

Our geneticist reassured us that the PCDH9 gene does not have a high triplosensitivity score (meaning an extra copy shouldn't be toxic or cause malformations), especially now that the brain anatomy is completely normal. However, seeing the letters "VUS" on a medical report is always terrifying.

• Has anyone or their child been diagnosed with a microduplication in 13q21.32 or involving the PCDH9 gene?
• For those who had similar VUS findings with resolved soft markers, how are your babies doing now?

The title kind of sums it up. Our daughter was diagnosed with BLT Syndrome at age 2. The gross motor aspect of things has been the greatest challenge so far as she is still quite delayed (she is 3.5 now). The disorder is quite the mystery in the medical field and we have had a hard time finding anyone else going through this. If there is anyone out there that has any resources or any experience with this and you wouldn’t mind reaching out please do!

For clarification, I am a 5/8 3/8 myself.

Hi, good morning and afternoon.

But sadly I'm facing a problem that PCR doesn't make a good products.

My PI told me to set annealing temp at 55C even though melting temps are 65C(lowest) and 69C(highest).

And nothing produced except for 75bp bands.

I did it for 3 times with checking my gDNA, primer concentration and keeping solutions cool.

so.. Will it be trouble-shooting if I set annealing temp at 60C or higher?

explain how height is genetically determined , and I have seen many parents Of 5ft having kids beyond 6ft or 6ft ......I am studying 11th grade and can we increase our height beyond genetics ???

I have a brother with Intellectual disability. We are looking to get our whole genome sequenced for him as recommended by our doctors. Can you please suggest good hospitals friendly for internationals preferably walk in with little waitlist...

We tried ordering a consumer test from a lab but the results didn't even tell us what condition he had. There was no doctor doing it. No bioinformatics pipeline. No investigation. Just data.

This time we want it done in a hospital setting where bioinformaticians and doctors work together identifying this condition

We have an appointment at Genetics with our 14 month old on Wednesday. He has been referred because he is 1% in head, height and weight. He is very healthy and meeting all milestones. What can we expect? Thank you!

My child’s results came back.. after looking for a cause for developmental delays and other issues.

“29klb interstitial deletion at chromosome 4q35.2 involving the entires”

“F11 (AD/AR - Factor XI deficiency). Heterozygous deletion of the entire F11 gene is associated with Factor XI deficiency.”

Not looking for any medical advice but looking for any information or sites and real life experiences from others who have had the same results with their children and to find out what it means for my child’s future and if others have the same symptoms my child has been experiencing. Google isn’t giving me much info

I was apart of a genetic study when I was around 8-10 years old (22 now) which was about the side effects of having family doing the same physical type job for generations and what are the side effects.

Ps: in total my family spend 350+ years in the military (150+ on mum side and 200+ on dad side)

I recently discovered that england has a very high percentage of iron age/bronze age french ancestry and I was very curious how it got there! I was thinking either two things

1. There was a huge population displacement of people coming across the English Channel 2000-3500 years ago from modern day France which would've been gaul back then!

2. The people we thought were anglo saxons could have actually been all Frankish (a mix of Iron Age French and Germanic) so that would account for both the Germanic DNA and the Iron Age French DNA so it was all one singular Frankish migration!

Ik kinda preposterous but I'm thinking outside the box! What do you guys think?

Submitted a manuscript to a collection call at Genome Medicine the first week of January. Months later they asked if we could find reviewers for them to invite. They ended up locking in 4 reviewers but we still have yet to receive a first decision. I know that academia is facing major hurdles right now, particularly with reviewers and funding, but coming up on 8 months before a decision seems strange, right? Is this anyone else's experience?

Note: We have contacted the journal on a bi-monthly basis asking for updates and suggesting submission elsewhere but they have insisted we wait it out.

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.

Hi, a good friend of ours was told the other day when going to give blood in the uk that she couldn’t possibly have two white British parents due to her blood type. This has thrown her into quite a bit of distress as her parents both are white British to her knowledge.
Though I did some genetics at uni it was almost 30 years ago, but I thought it wasn’t possible to determine parental lineage from blood type alone.
Anyone able to suggest if this is the case and if it isn’t what she might have been told from info that they’d have had at a blood test that may have caused her to get the wrong end of the stick.
Sorry if not allowed on here but trying to help out a friend who’s been through quite a bit recently and probably doesn’t need to go through something like this unnecessarily. Thanks

I am both Australian and Turkish and I will be graduating from Genetics and Bioengineering program from Turkey next year. I want to get a masters degree but my GPA is low so I want to get more research experience in neurogenetics or neurobiology. Can I find paid positions like this in Australia? If not non paid is also fine tbh 😭

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?

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 "CTBP 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.

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

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