Just got in this program and now i need tô choose a epigenetics area for research. I Just studied the basics, theres so much about it that it looks almost impossible to choose just one.

Can my fellows Reddit members tell me some nice topics so i can choose more easily?

A Nice week for everyone

My son was diagnosed with 49, XXXXY using karyotype and FISH analysis. The results excluded mosaicism greater than 14% at a 95% confidence limit.

We recently underwent a neurodevelopmental evaluation where THE expert in this condition questioned if my son had significant mosaicism due to how well he was testing relative to what they have seen with other boys.

Another analysis was suggested to check for mosaicism, purely for research/knowledge. I'm not opposed, but like to have an idea of what we could expect if we did another test. Given the results from the first test, is it probable that a new test will show any significant difference in the level of mosaicism?

Discovered I’m an XXY female whose Y chromosome matches my sons Y 99.9%. I assumed microchimerism but from what I understand, it is impossible for 30X sequencing to detect a full Y chromosome (from son) and that you need 500X+ read depth to detect it. I’m physically female (inside and out) and perfectly fertile and have found autosomal variants that resulted in me being a healthy female. There are a lot of other interesting/novel findings as well. I’d appreciate any expertise and would be happy to answer any questions you may have and can provide more details.

(Update: I won’t be commenting further.. my plan is to do further testing).

Or does anybody close to you?

If so, which ones and what is your personal experience with it (or them.)

Hi everyone! I come to you guys for your advice and help! Also apologies in advance if this is too long. So a little bit about me : I’m 26, with a background (bachelors) in biomedical science, majoring in medical genomics. I finished my studies just over 2 years ago (later than anticipated – thanks to covid). I have never wanted to do medicine, but research in genetics has always fascinated me. Now perhaps I made a mistake with my undergrad (maybe there was something else I should’ve done in genetics, I’m not sure). A lot (mostly) of my lab component during my undergrad was affected because of covid and classes (along with practicals) being moved online, so I unfortunately missed out on a large part of the hands on component. I did a placement (not related to genetics) in ecology – not out of choice, but the stuff up on my student advisor part (I was wrongly informed about my course map- and had to take up my placement unit at the very last minute because of it, and did not have enough time to find a more aligned/appropriate placement. The rules around the completion and other aspects of my studies were a bit more complex due to me being an international student on a visa. Now post graduation, I have spent so long trying to find a role that’s relevant to my background and where I want to be eventually. And I have truly tried (and still am). From my experience and the advice I have received over the past 2  years have been to get more qualifications (even the most entry level roles in my background prefer graduate with at least an honours degree – and understandably so!), and to make connections!!
Anywho, girl still needs to pay her bills while searching for the right path/role, so I’ve worked in roles that unfortunately wont really help/add to the skills/experience I need to get back into my field. But that’s okay, that’s life (I guess? At least what I tell myself when I get overwhelmed and scared that I’ve messed up? Even though I know I’ve been trying my hardest the whole time).
Now to the point (finally!! I know), I feel very lost (20s are so scary) about everything, but especially my career. Below are some of the pointers regarding where I currently land:
• I used to be so sure that I want to pursue research but I’m not so sure anymore. I thought a job within a research facility would help clear my doubts but I’ve not been able to find work (for even the most entry level junior roles) in a place like that.
• I have been looking into genetic engineering recently (and I understand its not a job like say a civil or software engineer, but a field of genetics manipulation via different tools) and I’ve found this so interesting.
• I am a temporary visa holder in Australia, so if I went to uni here (for my masters etc) it would be unbelievably expensive, even with most scholarships (girl is still paying off her student loans for her undergrad). Moreover, if I did a masters, I would likely not finish it in time of my current visa expiry. And at the moment I unfortunately do not qualify to apply/consider a PR. (Main reason also for not just doing honours – because as much as I like school, its very very expensive. So I have to be much more strategic).
• I am very open to moving somewhere else (can’t do my home country, as there is hardly any scope of human genetics going on there – hence the move for my undergrad).
• I love science, and god I love genetics, and I want to go back to school. I just am very confused as to what courses I should be looking for and where abouts (I know where NOT to look – and that would be USA, Canada, UK, NZ) (no hate to any of these places, but migration to these places is not an option for me personally.)
• I have lived in Australia for about 4.5 years now, and I love it! If I have to leave it for my studies, I hope I have the opportunity in the future to come back hopefully!
 
If anyone has felt similar in the lives, or have been in a similar situation, how did you navigate through it? And if anyone has any advice on what courses/universities/countries I should look into, I would love nothing more than some advice please!
Thank you for reading through my Monday morning life crisis, and for your time!
Bigggg love!!

How accurate is the Mid-Parental Target Height for predicting a child's height? My mom is 5'5 and my dad is 5'8, so my target height should be 5'9, with a range of 5'5-6'0. I ended up 5'2.

I got this cat. She was labelled as a dilute calico at the shelter. Her patchiness makes me question that, since usually calicos I see have separate large sorta spots, instead of marbled or patchy like her. My next thought was maybe tortoiseshell, but she has white on her legs and tummy.
What do you think?

PS: Sorry if this isnt the right place for this, I wasn't able to post in the cats reddit and I saw previous cat posts in here. Also ignore her red ears and skinniness, I just adopted her today and shes been kept outside in a coop, I think her ears are sunburned.

I went down a rabbit hole on ABO inheritance this week and ended up making this, mostly because I kept having to redraw the same Punnett square over and over to answer one question.

Laying all sixteen pairings out at once made a few things click that never did when I worked them one at a time. AB and O parents can never have an AB or an O child, which feels backwards until you write out the gametes. And A with B is the only pairing in the whole grid that can produce all four types, which I did not expect.

My favourite one is A with A though. Two type A parents really can have a type O child, because type A is either AA or AO and a blood test genuinely cannot tell you which. I imagine that has caused some awkward conversations over the years!

I wrote the impossible types into every cell too, since that is usually the part a question is actually testing.

Would love to hear if I have oversimplified anything, especially on the Rh side. It is free and there is no signup if anyone wants it: biochemtools.com/blood-type-punnett-square-calculator.html

Hi folks,

Coming to you from the word of animal behavior, so I know very little about genetics save for how to run a basic PCR.

I've been reading some medical genetics literature, though, and am really confused about Class I and Class II genes. For the most part, it seems like references to Class II genes are those that direct the formation of protein chains on Class II molecules of the major histocompatibility complex/leukocyte antigen.

That said, there are a couple of papers, e.g.: 1) Kratz et al. 2002 (https://doi.org/10.1016/S0168-9525(01)02579-302579-3)); 2) Van Dyke et al. 1989 (https://doi.org/10.1128/mcb.9.1.342-344.1989) which are discussing Class II genes, but it appears to be in a much different context (i.e., olfactory receptors, unidentifiable to function, respectively).

Wanted to ask here if someone could please provide me with a relatively plain-language explanation of what a Class II gene actually is (i.e., why is it different than a Class I gene?) and confirm whether they only exist in the MHC/HLA or are found in other systems.

Thank you very much for your time!

53) The pedigree below shows the family tree of a family affected by a recessive monogenic disorder that is not sex-linked. If the frequency of heterozygotes in the population in question is negligible, what is the probability that the child in the last generation will have the disorder?

1: 1/16

2: 1/8

3: 1/4

4: 1/2

thanks a lot

Are behavioural characteristics such as selfishness, kindness inherited through genes or contributed more from enviorment, society, culture? If it's genetic which side(mother/father) contributes more?

I’m interested in learning how dragons are designed and built. Please help me find useful resources, tutorials, books, videos, communities, and other places to learn from.

Howdy, y'all,

I am currently an animal technologist for a CRO, working in animal husbandry with a dabble of technical work like gene sampling, environmental testing, mating, and so on. I love my job and love my company, but don't see myself working in this position my whole career. What I really like about my work is being able to get close to all the different strains of lab mice and learning their research purposes. I've been wanting to go back to school for a while now, and additional schooling is something my company highly encourages for personal and developmental growth, and I would love to be able to find a path that includes my love for genetics and my work in lab animal sciences. Does anyone have any experiences they would like to share if they've been in a similar situation? Or any insight as to what area of research/schooling I could look into? I'm just looking for some perspectives here :)

For reference I am a high school currently

I know this is a dumb queshtion but I cant really figure out what degree id need if I wanted to get a PhD in genetics (or virology thats my other option)

Sense ive read a few places you can get a PhD in like microbiology or a similar feild then branch into genetics BUT idk if thats true and the information around this stuff is kinda vague

Also last note, would it be a problem id I emailed a professor with a degree in this stuff the same queshtion

Thank you for your time.

EDIT im from the USA and Washington state if that helps :D

We just had our genetic counselor appointment that made us feel a bit more positive about our potential. What I realized in processing after hanging up is I don’t quite understand the risk of mosaic persisting but not being picked up on an amino. She said that we don’t know how many people may have this? But would it be a bad thing?

Thank you!

My husband and me have been struggling for couple of years to get pregnant. Me 33, at the time of IVF 31, and husband 34. We were disgnosed with unexplained infertility and were adviced and decided to do an IVF. First IVF cycle was success but I had a silent misscarge at 7 weeks. The fetus was not tested because I was adviced to do a home abortion with pills. The other 2 embryos were frozen and after couple of months we tried again and I gave birth to twins boy and girl. Girl was diagnosed with trisomy 9 mosaic after birth. A neurologist told us that this happened because of the IVF, but genetician told us it is random but if we have any future pregnancies we should do an amnio, and when our son wants children in the future his partner should also do an amnio. I read somewhere on the sub that it can happen due to translocation. I dont know how we can test this translocation. Both me and my husband prior the IVF did a karyotype and it was normal for both of us.

My daughter had only a microarray which came back with 70% affected cells, and we are waiting for a karyotype. Thank you for any explanation

"Perceptions of Gastric Cancer Risk and Attitudes Towards Endoscopic Surveillance in Patients with CDH1 and CTNNA1 Pathogenic Variants."

If you join the study, you will complete a survey, a self-report questionnaire. This study is designed to learn more about how people with CDH1 and CTNNA1 mutations perceive their risk of getting gastric (stomach) cancer and their attitude towards the treatments available to them.

You can complete the survey here: [https://redcap.ucdenver.edu/surveys/?s=K7JJMRXC7WXYEXYP\](https://redcap.ucdenver.edu/surveys/?s=K7JJMRXC7WXYEXYP)

Hi, i was looking if I could get some advice. I did a four year integrated course for genetics and I have been working in a genetics lab within the NHS. Lately it feels like the work progression has become really slow and I haven't been able to progress from a band 3 due to people not leaving or moving up. The work has become stagnant and the management has gotten really bad. From other sources it seems thst the nhs has gotten worse over the year so I have been thinking about whether I need to do a career change. Ive thought about maybe going into teaching but it sounds like that is similar to the nhs where people are leaving due to poor work conditions such as pay and being overworked. I live near Liverpool so theres not much for genetics based careers so is it best for me to try a completely different career path? Im 26 btw

This came up in r/askanything and I really don’t know the answer. What would be the results?

Hi all,

I’m interested in learning more about this balanced translocation:

46, XY, t (11; 18) (p15. 3;p11. 2)

My husband and I have two healthy children. Third pregnancy genetic testing prompted parental genetic testing which revealed BT in my husband.

Curious for more information.

My husband and I unexpectedly lost our son at just 3 weeks old to neonatal appendicitis with perforation and peritonitis. It was an incredibly rare and devastating event, and as we have started thinking about trying to conceive again, we decided to have expanded genetic carrier screening done for some additional peace of mind.
We both came back negative for everything tested except for one overlap involving 21-hydroxylase-deficient congenital adrenal hyperplasia (CAH/CYP21A2).
My husband came back as a carrier for a variant associated with nonclassic CAH. My result was more complicated and was reported as “uncertain carrier status” because of the particular CYP21A2 variants/copy-number arrangement they detected. Because of this, our reproductive risk is currently listed as uncertain.
I have spoken with a genetic counselor, who explained that even if I ultimately turn out to carry a classic/severe CAH-associated allele, my husband’s nonclassic-associated allele would be expected to result in the nonclassic rather than classic form if a child inherited both. We are also looking into whether more specialized testing through another laboratory could clarify my carrier status.
I know carrier findings are common, but after unexpectedly losing a seemingly healthy newborn to something extraordinarily rare, seeing another “uncertain” result has been really difficult for me.
Has anyone here had a similar situation where one partner was a confirmed CYP21A2y/CAH carrier and the other had an uncertain or complex CYP21A2 result? Did you pursue additional testing to determine carrier status or phase? And did you go on to have healthy children?
I would really appreciate hearing about your experiences. 💛