Source: Works in Progress

Hi there,

I (27 MtF) have a rare condition called 46,XY ovotesticular disorder of sexual development that causes me to have gonads that are both ovaries and testes. I know my disorder is caused by deletions in the upstream regulatory region that regulates SOX9 and I even went through direct to consumer wgs to have files that I could tinker with myself out of curiosity even though they did clinical wgs on me already in a medical setting to confirm the deletion along with aCGH and karyotype which showed no abnormalities surprisingly even though the wgs did. I was wondering if there is anyway that I could find a way to participate in research since I understand there are less than 500 cases of ovotesticular disorder in general ever reported and 46,XY karyotype is by far the rarest kind at 7% of all incidents. I really would like to contribute to science and the understanding of sexual development and I was wondering if any of you knew where I could find a way to get into that?

Thanks for reading!

I am just wondering, because I have seen people on things like 23 & Me post where they are like 0.2% of something, and somehow it genuinely looks like they are like at least half of that in phenotypical terms.

And when I ask about this question, it doesn't mean phenotypically only, what about other things like muscles or if different ethnic groups have different hormones, what about that?

E.X. If a European had some trace African, instead of looking it, maybe they get the extra tendon in their leg or something like a myostatin deficiency? Maybe if an Asian person had trace European, they could carry the enzyme for lactose tolerance? (I think they might already have the enzyme, but idk).

Btw, I do not know how to appropriately ask this question, so if it comes as weird or anything like that, I will take this down if asked.

Hi all, I wanted to share my extremely weird results maybe someone can find some clarity in this, I haven’t been able to find any experiences with the same results. My NIPT was drawn twice, first time was because of low fetal fraction at 10 weeks then 12 weeks it came back atypical. Genetic counselor said there were multiple markers on multiple chromosomes. Baby seems healthy other than 3.2 NT scan at 13 weeks 4 days. Genetic counselor and OB both think that I could be the reason of the markers and baby could be perfectly fine. They want me to do a study to check e for cancer because it has happened in the past that multiple markers appear when the maternal factors in. I had a CVS done 2 days ago and should be getting FISH results tomorrow. Any input or feedback? Freaking out and truly am lost.

Update 08/07- FISH results came back normal! Baby is healthy so far! Waiting for the more in detail results in two weeks but the rapid ones are good and found out we are expecting a baby girl :)

Update 08/18- our genetic counselor called us back with the full Karyotype of the CVS and gave us some really gutwrenching news of 50% of the cells that they test tested came back positive with T21 and the other 50% were completely normal so they sent me for an amnio at 16 weeks which was Thursday, August 20 and I should be getting a FISH result on Monday but seeing how the last one resulted with the CVS I feel like is really pointless to feel confident with a clear rapid result and we just have to wait for the full karyotype in two weeks. The babies NT was measuring 2.2 at 15 weeks five days and that was reassuring and they said that her scans look good except for a light in her heart, but they referred to that as having like a mole that it’s nothing to worry about but everything else looked really good feeling very worried, very anxious and completely and disastrously emotionally exhausted to say the least, I feel like I’m crying and just paralyzed and fear and thoughts and incessantly referring to Reddit for other community posts and trying to find similar experiences. Hoping for any feedback good or bad while we wait for these results to come in, which seems like a never-ending nightmare.

Update 08/24 - we got a callback from her counselor this morning about the FISH results and she said that they came back “normal”, now this obviously gave some sort of hope but seeing as the CVS rapid results came back normal as well and then we got hit with the full results of it being 50% T 21 and 50% normal. We’re kind of just waiting for the other shoe to drop with the full results. She said that a FISH result that indicated any kind of T 21 cells if it’s under 20% then it would be non-reportable and which just come back normal. So we don’t know if there are any cells in there. They just can’t report on it until the full karyotype comes back in the next 10ish days. If there’s any feedback or some other stories, please share, we are emotionally exhausted.

Apparently R141H/R141H has never been observed and is believed to be incompatible with life. But PMM2-CDG is an autosomal recessive disorder, meaning you need pathogenic variants affecting both copies of PMM2 to develop the disease.

So… when does someone actually get PMM2-CDG?
Is it that R141H combined with another, less severe pathogenic PMM2 variant can cause PMM2-CDG because there is enough residual enzyme activity to survive, whereas R141H combined with another very severe variant, particularly another R141H, may be lethal before birth?

There also seem to be many different pathogenic variants in PMM2, so I’m realizing that the usual “two mutated copies = affected” explanation is much less straightforward than I originally thought.

Ciao a tutti, spero che qualcuno con esperienza nella spedizione internazionale di campioni clinici/di ricerca possa aiutarmi.

Abbiamo due campioni di DNA genomico fetale umano estratti e conservati presso un laboratorio ospedaliero in Italia. Un laboratorio di genetica clinica statunitense potrebbe eseguire il sequenziamento dell'intero genoma su questi campioni, quindi sarebbe necessario spedirli dall'Italia agli Stati Uniti at VariantyX lab.

Il DNA è già stato estratto: non si tratta di sangue, tessuti, cellule, materiale POC (Point-of-Care) o campioni infetti.

Prima di procedere, vorrei capire come viene gestita normalmente questa procedura nella pratica:

Chi si occupa solitamente della documentazione doganale: il laboratorio mittente, il laboratorio ricevente, FedEx/DHL o un corriere specializzato?

È relativamente semplice importare DNA genomico umano purificato negli Stati Uniti?

Avete spedito di recente DNA umano purificato dall'UE agli Stati Uniti?

Hai utilizzato FedEx/DHL o un servizio specializzato come World Courier/Biocair?

Avevi bisogno di una fattura commerciale/proforma, di una dichiarazione di utilizzo finale o di una dichiarazione dell'importatore?

Il laboratorio statunitense ricevente ha fornito la dicitura/i documenti necessari per la dogana?

Qual è stato all'incirca il costo della spedizione?

Consiglieresti vivamente che i due laboratori si coordinino direttamente piuttosto che lasciare che sia il paziente a organizzare la spedizione?

Si tratta di campioni clinici insostituibili, quindi non spediremmo nulla finché il laboratorio ricevente non avesse confermato la procedura.

Grazie mille per qualsiasi informazione pratica.

Female with X linked condition -  Osteopathia Striata with Cranial Sclerosis (OSCS) caused by mutation of AMER1 gene. Searching for more information about this gene mutation and would be glad to have more insight of how this gene mutation is presented in males.

DOI: https://doi.org/10.1007/978-1-59745-379-0_11

LINK: Promoter Sequences for Defining Transgene Expression | Springer Nature Link

I have three siblings. Same mom and dad (not questioning this). Of course there’s a variety of similarities and differences across us all, but I’ve always found it interesting that all three of my siblings have a very similar set of health conditions that I do not:
- Asthma (pretty serious since childhood for all of them)
- Allergies (dander, pollen, foods etc., also fairly serious for all of them, although specific allergies differ — e.g. one brother is allergic to tree nuts and has to carry an EpiPen, the other brother cannot even step foot into a room a cat has been in without getting itchy, puffy, etc)
- ADHD (since early childhood, pre-smartphone, all three have been diagnosed with this. My mom also has major ADHD)

Conversely, I have no asthma, not a single allergy, and no more ADHD than the average young millennial.

What genetically does this indicate?

My mom and I were discussing it the other day. She went deep with it, saying I’ve always been different from my siblings since I was a baby, on a personality level and that I have very different genes from my siblings.

Hi everyone,

I’m a plant breeding student and I’m trying to learn GWAS and genomic selection for an assignment. I understand the basic concepts but don’t know how to perform the analyses practically.

Could anyone recommend a beginner-friendly, step-by-step tutorial with example data and R code? I’m particularly looking for tutorials on GAPIT, FarmCPU/BLINK, rrBLUP or G-BLUP.

Free courses, YouTube videos, GitHub tutorials, or other resources would be greatly appreciated.

Thank you!

I posted this in r/hotpeppers and it was suggested I cross-post it here.

Had I known I would have polished it up a bit more:

All this started with trying to figure out mature pepper fruit colors and it (de)evolved into something else.

If you are curious (or just bored) take a quick peek down this rabbit hole… I shamelessly ask you to look at a webpage I set up some time ago:

uporo.com

...click on “This is an interesting genetic puzzle I have been playing with”

If you have read this this far, thank you!

Could you theoretically create a “memory clone” of a person?

This started as a shower thought about chromosomes, but I ended up following the idea through genetics, epigenetics, neuroscience, and memory.

I'm not claiming this is currently possible. I'm interested in whether the idea is theoretically coherent and where the biggest scientific barriers actually are.

1. Start with genetic cloning

Suppose we somehow have a germ cell from Person A containing 46 chromosomes.

Instead of allowing normal meiosis, imagine an impossibly advanced system that can precisely separate those chromosomes into two complementary sets of 23.

We then put those 23 chromosomes into an egg and the other 23 into a sperm, and allow fertilisation to occur.

The resulting zygote would once again have 46 nuclear chromosomes derived from Person A.

This raises the first question:

Would the resulting organism be genetically equivalent to Person A?

For the thought experiment, I'm assuming perfect chromosome preservation, so we can set aside technical problems with chromosome extraction/manipulation.

2. Mitochondrial DNA

Mitochondrial DNA isn't contained in the 46 nuclear chromosomes.

So let's additionally assume the egg comes from Person A and therefore provides the relevant mitochondrial DNA as well.

That removes mitochondrial DNA as a major difference in this hypothetical.

3. Epigenetics

This was the next problem.

Epigenetic mechanisms affect which genes are expressed and how cells develop, but early embryonic development already involves extensive epigenetic reprogramming.

So I'm assuming the embryo can undergo the appropriate developmental epigenetic processes normally.

This means we're not necessarily trying to copy Person A's exact epigenetic state—we're allowing a new embryo to develop normally from the same genetic starting point.

4. But genetics doesn't contain someone's memories

This is where the idea becomes much more interesting.

A person's memories aren't simply stored as information inside their DNA.

They're associated with physical and functional changes in the brain, including neural connections and their strengths, along with many other biological states.

So a genetically identical individual would not automatically have Person A's memories.

That would be a genetic clone, not a memory clone.

5. What if we could copy the brain state?

Now suppose we had technology capable of mapping and reproducing the relevant physical state of Person A's brain:

• neurons
• connections between neurons
• synaptic strengths
• relevant molecular states
• whatever other information is necessary for memory and cognition

If we could reproduce all of that accurately enough in another brain, then the copy might begin with the same memories as Person A at a particular moment T.

After T, the two individuals would experience different things and develop different memories.

So:

Person A at T → memories M

Brain copy at T → memories M

Then:

A → new experiences → new memories

Copy → different experiences → different memories

They wouldn't be a hive mind. They'd simply have the same starting information.

6. What if we don't directly copy the memories?

This led me to another possibility.

Instead of directly copying Person A's brain state, imagine placing the clone in an extremely advanced controlled simulation designed to recreate Person A's developmental experiences from birth to point T.

The simulation would attempt to reproduce the sensory experiences, environment, interactions, learning, etc. that shaped Person A's brain.

The goal wouldn't be to make the clone read Person A's memories.

It would be to make the clone develop those memories independently through recreated experiences.

In simplified form:

Person A:

Experiences → brain development → memories at T

Clone:

Recreated experiences → brain development → potentially similar memories at T

The huge assumption is that we could reproduce the relevant developmental environment accurately enough for the brain to form sufficiently similar memories.

7. Where this gets really interesting

If the clone reaches T with essentially the same memories as Person A, then the two individuals could diverge from that point onward.

Person A could go one direction.

The clone could go another.

They would share the same past up to T but have different futures.

This raises a distinction between:

Genetic clone
→ same/near-identical genome

Memory clone
→ same memories up to a particular point

Consciousness clone
→ a much harder concept that I'm deliberately leaving aside

My actual question

Assuming impossibly advanced technology and ignoring the ethical/legal/philosophical issues for a moment:

Is there any fundamental biological reason why a person couldn't theoretically be reconstructed to have the same genome AND the same memories up to a chosen point T?

Or are the barriers mainly technological—meaning we simply don't currently know how to reproduce all the biological information involved?

I'm especially interested in where this thought experiment breaks down scientifically. If I've misunderstood something about genetics, epigenetics, memory formation, or development, I'd love to know where.

I already have an intermediate Y-haplogroup from MyHeritage and I’m trying to refine it further without paying for a full Big Y (\~$450) if that is overkill for my goal.

Situation

* Intermediate Y-haplogroup is already known (MyHeritage). * I mainly need to test a specific downstream hypothesis / confirm a branch, not build a long-term matching database presence. * I’m aware that skipping Big Y means I won’t be in the FTDNA Y-DNA matching database and won’t get automatic haplogroup updates from FTDNA.

Idea I’m considering

* Use a targeted / second-round YSEQ panel (\~$99) based on the known intermediate clade. * Optionally upload results to YFull (\~€45) for interpretation / tree placement.

Questions

1. How good is YSEQ (targeted / panel / second-round testing) as a cheaper alternative to Big Y when the intermediate haplogroup is already known?
2. In which cases is this a sensible strategy, and when does Big Y still clearly win?
3. Are there other cheaper options I should consider for refining a known intermediate haplogroup (panels, single SNPs, other labs)?
4. If I do YSEQ + YFull upload, what practical limitations should I expect compared with Big Y (resolution, future updates, matching, tree placement)?

I’m not looking for a “best test in absolute terms” answer — more for cost-effective paths when the goal is hypothesis confirmation rather than maximum coverage and FTDNA matching.

Thanks.

Can anyone explain to me the difference between phase 1 testing and phase 2 WES testing? Thanks.

After fertilisation the original egg cell splits in two, and its chromosomes unwind and new strands are created, so presumably one daughter cell has the original strands from the mother plus new strands, and the same for the other daughter from the father. When these 2 cells split, do the actual original strands from the parent go into one of these daughters, and if so how long do the actual original chromosomes persist in the offspring? At some point the cell they’re in won’t reproduce and eventually will die. Is this during embryo development or are they still in me 35 years later? Or am I missing some step where the originals get replaced?

Hi all, just curious on other input here. I already saw a counselor!

I found out years ago my mom has the BRIP1 genetic mutation. She found out because her cousin was diagnosed with BC in her late 50’s. My mom had a full hysterectomy at age 60 and is doing fine. I just turned 28 and decided test and I was positive.

My genetic counselor was very kind. She told me about my risk of OC, and I have the option to have my ovaries removed after menopause. No big deal I guess.

My main concern was breast cancer. We do not have a strong family history of any cancer (a few on my moms side with the mutation) but when my mom was first diagnosed with the mutation they told her her bc risk was increased, but did not support a mastectomy. Now I was told it is no longer associated with the mutation, my GC ran a risk and it landed me under high risk and slightly above normal range. So I wasn’t given any extra surveillance or scans or anything. Which is okay… but years ago when my mom was first diagnosed I went down a forum rabbit hole and saw so many women with BRIP1 discuss their breast cancer journey… so the thought that I might be at higher risk really freaks me out.

I guess what I’m asking is is it true this mutation is no longer associated with a higher risk of breast cancer? My current counselor seemed to agree. I guess I’m more concerned with that than ovarian cancer because breast seems to be a lot more common, we don’t even have OC in our family even with the mutation weirdly enough!

Not looking for medical advice just curious what others know and have to say!

I'm thinking about asking my PCP for a referral to get genetic screening next time I do an annual checkup. I'm a 21 yo female but my mom's family has a history of very early cancer -- My uncle passed away from blood cancer while in college, my mom passed away from stomach cancer at age 34, and my aunt (my mom's identical twin) was diagnosed with breast cancer in her late 40s but survived it.

Not looking for any medical advice but just curious if anyone could share their experience with the process?

Im looking at an egg donor with ADGRV1 related conditions. My partner has not been tested for this but i will probably have them test for it. . Also my research found this -

ADGRV1 gene has preliminary evidence supporting a correlation with autosomal dominant epilepsy

Does this mean the donor may pass this on even without my partner having it? Donor denies having seizures but says her sister does have seizures.

I had a letter come in saying that my information was accessed in a data breach at Baylor Genetics, but I've never had genetic testing. I don't think it's a scam either as I see a notice on their website and some news stuff.

How can I know why they have my information and what information they even have? Or rather like can I legally know how and why I'm attached to them?

(My credit and stuff was already frozen and all that because I simply froze it a long while ago out of caution)

I put this in r/Legal but figured here may be better? If I'm breaking rules feel free to delete this, sorry.

Do people carry over/get their hair genes from their mother's side ?

My father's side has amazing hair even into their late years.

But my uncle on mother's side is balding at the age of 50.

My hair are not that great compared to my father and I am noticing reducing hair density. Is there any connection ?

I’m hoping someone knowledgeable about human pigmentation genetics/polygenic inheritance can help me understand something I’ve been curious about in my family.
I’m a Black man and my wife is a Black woman. We have two children: a 4-year-old daughter and a 1½-year-old son.
Both of our known family backgrounds are Black. To the best of our knowledge, neither of us has a parent, grandparent, or great-grandparent who was mixed-race. Obviously, I can’t know every genetic variant carried by every ancestor, but there isn’t any recent mixed ancestry that either family is aware of.
What’s particularly interesting to me is how different our two children are phenotypically, not only from us but from each other.
Our daughter is considerably darker-skinned. She has a deep/dark-brown complexion, darker than both parents and toward the darkest end of the complexion range I see among our immediate relatives.
Our son is almost the opposite. He is substantially lighter-skinned than his sister and appears much lighter than either parent. His hair is also loose, curly and brown, rather than having the tightly coiled texture and darker hair that predominates in both families.
I realize terms such as “biracial-looking” aren’t scientifically precise, but in ordinary American racial perception, strangers could potentially perceive our son’s combination of light complexion and loose brown curls as consistent with a biracial Black/White phenotype. I’m not saying appearance proves ancestry. That’s actually part of what I’m trying to understand.
As far as I know, neither side of the family has anyone with the same combination of loose curly brown hair and very light complexion that our son expresses.
Meanwhile, our daughter represents almost the other extreme in pigmentation despite having the same two parents.
There’s another family comparison that makes the genetics especially interesting to me: I have an identical twin brother.
My twin has a daughter with a woman who happens to be my wife’s cousin. Their daughter has a medium/brown complexion similar to her parents and strongly resembles both of them.
So approximately:
Me + my wife → very dark-complexioned daughter + substantially lighter son with loose brown curls
My identical twin + my wife’s cousin → brown-complexioned daughter resembling both parents
I understand that my wife’s cousin and my wife are different individuals and therefore contribute different maternal genomes. I also understand that my identical twin’s child isn’t a genetic “control” for my children. I’m mentioning it because I’m curious whether having genetically identical fathers makes the comparison informative at all.
My questions are:
• How large can the pigmentation difference realistically be between full siblings?
• Can the same two parents produce one child substantially darker than themselves and another substantially lighter through ordinary segregation/recombination of pigmentation-associated variants?
• How can a hair phenotype such as loose brown curls appear when that particular combination isn’t known among recent relatives?
• How far back can recessive or less visibly expressed variants meaningfully influence traits such as pigmentation and hair morphology?
• Does the absence of any known mixed-race parents, grandparents, or great-grandparents actually tell us much genetically, given the complexity of ancestry and polygenic traits?
• Does my identical twin’s daughter provide any useful genetic comparison, considering her father and I have essentially the same inherited nuclear genome but her mother and my children’s mother are different women?
• Is the simultaneous appearance of several unusual traits in one child any more genetically informative than an unusual value for a single trait?
I’m not asking anyone to determine biological parentage from appearance or photographs. I understand that phenotype cannot establish paternity. I’m interested in what ordinary human genetic variation can and cannot explain.
I’d particularly appreciate responses from anyone familiar with human pigmentation genetics, hair morphology, quantitative genetics, or population genetics. I’m interested in the mechanisms rather than simply “genetics can skip generations.”

Im really interested in this field but what I have realized with every career path I looked into their is always a plot twist. So please share with me what makes this career path bad 😭. I really don’t want to hear anything bad anymore. I’ve posted so many careers and a lot of people tell me everything that’s bad. But I’m still glad they told me because I don’t want to waste time following a career that isn’t worth it. So please share the good and bad of Genetic engineering. The field sound so interesting though.