/r/genetics

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For discussion of genetics research, ethical and social issues arising from genetics and its applications, genetics career questions, etc.

Genetics, genes, and genomes

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  3. No low effort posts - Posts which are directly addressed by the FAQs in the wiki may be removed. Posts and comments should generate or contribute to a discussion.

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Helpful links
Please check out our wiki for FAQs and helpful resources in genetics.

/r/genetics

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3

Odds of impact on daughters with HED

Odds of impact on daughters with HED

Hey Everyone,

I (male) have HED and am fairly severely impacted. My oldest sister and my mother both have it but are your typical "carriers" display.

I am looking at having my second child (first being a son) and due to other life reasons it will probably be via IVF. I would have never selected to have a child via IVF had it not been for these other circumstances and as such, would have just taken a luck of the draw as to whether I had an unimpaired son or an impaired daughter. Now that I am having them via IVF, it has made me question the ethics of not doing genetic testing and sex based selection.

For me, if I knew that having a daughter, they would be like my sister and mother (a missing tooth or two, finer hair, etc.) I'd be happy to just leave it to nature.

However, I was reading about inherited conditions generally and it appeared to suggest that daughters from fathers that are impaired tend to have more severe symptoms than daughters from impaired mothers. My life is hard enough with my condition, but I feel like it would be even harder for a girl if they had all the same symptoms as me.

As such, I think that for my ethics, if a daughter was going to be more severe like me, I would really need to consider genetic selection, however, if they were going to be more "carrier" than impaired, I think it's more ethical to let nature decide.

So my question is (and I'm going to see a genetics counsellor but looking for insight in the mean time) is it true that male X chromosomes are more likely to determine the severity of a condition than the female X chromosome and if so, how much more likely? Is there a general indication?

For example, if I'm a 9.5/10 for symptoms, my mother/sister are say 1.5/10 for symptoms, if I had a daughter with someone that doesn't have HED would they be more likely to be an 8, or does the male X only slightly increase the impact and its more likely they'd escalate from a 1.5/10 to a 2.5/10 or, is there just no way of knowing at all and they could be anywhere between a 1.5 and a 9.5?

Thanks for your help. I'm hoping this meets the guidelines as it's both about education and tied to ethics without seeking specific medical advice or opinions.

5 Comments
2024/02/12
04:23 UTC

0

R-M207 Haplogroup

I was told I have this paternal haplogroup. If there are any experts in this subreddit, can you tell me everything about this? I tried googling it and didn't learn much, thanks!

0 Comments
2024/02/12
03:23 UTC

3

Why are reference/variant alleles sometimes different between databases?

For example, rs1050450 is listed as G>A on dbSNP , but C>T on snpedia. I seem to find a pretty even mix for this rsid and my own 23andme results are AG.

2 Comments
2024/02/11
23:44 UTC

1

Paper suggestions for a journal club?

Hi! I'm presenting at a genetics journal club soon, and I was wondering if anyone knew of any exciting and/or topical new research that would be interesting to an audience of genetic counsellors and clinical geneticists?

4 Comments
2024/02/10
19:38 UTC

2

"Interstitial duplication of X chromosome 21"?

A bit earlier, I was watching a courtroom video involving a teenager with severe behavioural problems. He was described as having "interstitial duplication of X chromosome 21". Would that be a duplication of something like a "section 21" of his X chromosome? Or a partial duplication of chromosome 21? Or does the description not make sense?

1 Comment
2024/02/10
19:07 UTC

0

Am I smart enough for this?

I’m currently taking General Biology at my community college (first year). I was homeschooled and have no background in science, but I did like reading about science and messing around in my kitchen as a kid.

I’m really interested in Genetics. I’m interested in an idea of manipulating DNA to remove hereditary diseases. For example, breast cancer. Is there a way to decode between a starting codon and a stop codon, if there is a particular sequence thats causing a misfire? People say our DNA is messed up; its quite literally true.

We’re like living computers, the way our body works is incredible and I want to know more. Is this the point of Genetics? Is there more to it? Am I missing something or am I just completely crazy?

12 Comments
2024/02/10
18:51 UTC

6

Does it matter how many cells are counted? NIPT resulting in Microarray, Karyotype, FISH testing.

Hello, I keep hearing conflicting things from my Genetics Counselor and Dr. so I wanted to see if anyone had any clarity on here. Quick background: My baby was flagged High Risk for Monosomy X via Natera NIPT during my 13th week of pregnancy (less X chromosome material detected than is normal). So far all my ultrasounds/scans have been normal, I had an amnio 2 weeks ago where FISH and Karyotype tests came back normal. However, I'm not sure how many cells they looked at for FISH and Karyotype they only looked at 5, which seems super low to me (I read typical is 15). The MFM Dr. who performed the amnio said we were basically in the clear after the Karyotype results came back because Microarray looks for small issues and microdeletions that are incredibly rare. But my Genetic Counselor (who's technically on the Dr.'s team?) told me the Karyotype doesn't rule out lots of things, including mosaicism. I guess I'm confused what the Karyotype even did then? I guess they ordered the "abbreviated" version to speed up the process, and so the Microarray is where most of the results lie? Unfortunately, my Microarray is taking longer due to needing to be cultured, so I have to wait 2 more weeks for the results than originally anticipated, which is killing me. I guess I just want to know the likelihood the baby will have any Turner Syndrome, mosaic or not, at this point. Thanks for any thoughts, I find this so confusing!

12 Comments
2024/02/10
18:05 UTC

0

High School Research Project - Looking For An Academic/Expert in Human Genetics To Ask Some Questions!

I'm currently in my final year of school, and as part of my qualification I have to write a research project on any topic of my choice - which I've chosen to be human genetics and more specifically, difference in response to resistance training.

As part of the project, I have to get in touch with an expert to ask them 5-6 questions on the matter. It won't take long and would help out a ton if anybody here could help me out! Many thanks in advance🙏

1 Comment
2024/02/10
16:44 UTC

1

Need help

I recently started volunteering in a lab for genomic research and diagnostics. I am doing DNA isolation and last two times my samples had more or around 200 ng/mikroL of DNA in them (samples before that came out ok) which my mentor told me was to much and that it should not be like that. Does anybody have any idea why is that happening, because my mentor monitored me last time and could not figure out what was I doing wrong. I am using Zymo research kit and i have been following the protocol that is given with it. Any advice is helpfull. Thanks in advace.

5 Comments
2024/02/10
15:42 UTC

0

Does alcoholism skip a generation?

Both of my parents never drank. I have definitely struggled with abstaining from a drink and have teetered on the edge of being an alcoholic myself. I know my grandma on my mums side was an alcoholic and had similar mental health issues.

Does it skip a generation? How does that process work? Is it that I didn’t grow up with the (deterring) effects of alcoholic parents to nurture abstinence tendancies ?

14 Comments
2024/02/10
15:50 UTC

0

why so some many dna analysis tools tell me im french?

I know my ancestry very well, all of my ancestors come from switzland, germany and northern italy. yet oracle always tells me that the population im closest to is eastern french.

10 Comments
2024/02/10
11:19 UTC

8

Is there some kind of genetic element to attraction?

Yes, I know that this may seem to be a bit of a silly question, but stick with me here: I imagine that your preference, if you have one, will depend a lot on your environment (for example, if you live in an area that has a large number of people of a certain ethnic background, I wouldn’t be surprised if that’s what you ended up preferring.)

But is there any kind of genetic element to what a man “likes?” Have you ever met a man who seems to have similar taste in women as his father? (A type physically that he seems to like quite a bit.)

3 Comments
2024/02/10
02:41 UTC

4

WGS Interpretarion and Reports

I recently received my WGS results from Nebula Genomics. I want to get more details reports based on my data specially a pharmacogenomic report, Autoimmune and Mitochondrial Diseases and more info on my mutations. This to help my doctors diagnose me.

I have tried genegenie, nebulas own library and other sites including promethease (which apparently has many issues at the moment and are not delivering reports) and sequencing.com (But there's a lot of paywalls and the sample reports I see don't suffice).

So I want to know if there's services, sources, software, professionals or any other way of getting my data interpreted and generate reports. Any suggestion or ideas?

Note: I have only CRAM, FASTQ and VCF files. If there's a way to convert them into other formats please let me know. Thanks!

6 Comments
2024/02/09
20:06 UTC

3

question about polygenic traits and normal distribution

consider a trait like height which is normally distributed. are environmental influences necessary/required to create this bell curve pattern? a reframing of the question: does a normal distribution PROVE significant environmental influence?

OR in theory could any polygenic trait (even with little to no environmental influece for the sake of this thought experiment) also be normally distributed?

i’m not good enough with statistics to figure out if the independent random assortment of multiple genes/alleles is alone enough to create a bell curve. or would it just make a spectrum of traits with roughly the same rate of occurrence. thanks!

4 Comments
2024/02/09
15:03 UTC

1

Direct Paternal Family Line produces Many Male Children vs. Female

Going back to my seventh-great-grandfather (b.1720-d.1802), each of my grandfathers has produced more than or equal to the number of male children to female children.

Together they have produced 33 sons, but only 13 daughters.

Is family predisposition for a particular sex of a child a known thing, genetically?

Here is the breakdown:

Paternal GenerationMale:Female:
7th33
6th22
5th10
4th63
3rd61
2nd61
G-grandfather10
Grandfather72
Father:11
Total:3313

11 Comments
2024/02/08
18:33 UTC

39

Invitae prepares for bankruptcy

https://www.reuters.com/business/healthcare-pharmaceuticals/medical-test-maker-invitae-prepares-bankruptcy-wsj-2024-02-05/

Genetics industry news - one of the major players in commercial clinical genetic testing looks to be in dire financial straits and has lost a lot of stock value. They've also laid off quite a few people over the last year.

Hard to know what bankruptcy will mean for them (will they dissolve? Be acquired? Etc) or for the precision medicine industry as a whole. But something interesting to watch. They've had extremely aggressive pricing, especially for rare disease patienta where they've also had a number of free sponsored programs, and it looks like that wasn't able to pay off for them.

10 Comments
2024/02/08
16:47 UTC

5

Plasmids a long term solution

Hey guys I’m based out of India. My cofounder just graduated and we have started up a company in the microorganism space. We need to do genetic engineering and therefore require plasmids. Addgene is the best yes but we haven’t been able to find relevant plasmids that are available to industry. Any solution on finding plasmids that are available to the industry ? What do you guys use ? Thanks

4 Comments
2024/02/08
12:16 UTC

0

What do you guys know about rs460000?

3 Comments
2024/02/08
03:33 UTC

2

Are structural features inheritable?

Hey, guys! The title is a little bit self explanatory, but i will try to elaborate.

I believe strongly i have some considerable knock knees. I wish i didn't, obviously, but i start wondering what might have caused such a thing. When it comes to my childhood, my parents say it took me more time than usual to start walking properly, but i want to focus on something else.

My sister, my mother and, i think, my grandmother have some sort of valgus knee. My sister has the most serious one, which dates back to her very early life.

The question is if it is possible i might have inherited those structural traits regarding my lower limbs.

2 Comments
2024/02/08
01:46 UTC

2

Career Path in Genetics

Hello! I am currently an RN looking to transition into biology, genetics, and reproductive health. I have been fascinated by genetics since I was a freshman in high school, and I always knew it was my end goal. I am now here to ask about prospective ideas of which career would be best for me based on my interests. I have seen embryologists, genetic counselors, geneticists, and genetic engineers, but I am open to new ideas and want feedback on these jobs.

I am looking for a career where I can assess someone's genome, see genetic issues, and narrow down the possibility of it being passed down. I am also intrigued by the idea of helping someone have children who is struggling with infertility or in vitro manipulation of genetic issues. The concept of research is very exciting, too, especially with genetic issues or phenotype rarity (i.e. green eyes as an example) or research about conditions (such as endometriosis). I don't mind working in the "healthcare" aspect of it but, I don't want to be a nurse anymore. The idea of being a doctor kind of scares me with the responsibility of it but, I do think for what I want to do I would have to be one. I rather take data and figure out "why" and "how" if that makes sense.

Thank you to anyone who reads all of this and provides feedback :)

17 Comments
2024/02/07
21:04 UTC

2

Centimorgans (cM)

Hi I don't quite get the concept of centimorgans. so I was taught that 1 cM = 1 recombination event per 100 meiosis.

But then I was told that " one typical eukaryotic chromosome is measured around 100-150 cM regardless of its length ", which doesn't make sense to me. Does that mean 1 recombination event per 150 meiosis events?

Additionally I was asked this question " if an organism shows 0.25 cM/Mb, how many meiotic events do you need to analyze to observe at least one crossover between two markers that are separated by 1 Mb?

6 Comments
2024/02/07
10:21 UTC

11

I have a question For people who work in genetics ⛔️TW⛔️

My grandmother told me that she had two other kids besides my mom but then they died of a condition known as epidermallysisbelowsa and she told me that because of that her and my grandpa were technically related does anybody know how they could be technically related by chance they did DNA test to see their genealogy and it said that they are mostly Scottish and all that stuff basically they are very European and they’ve always wondered for years why both of their kids got that horrible disease

5 Comments
2024/02/06
01:49 UTC

2

What would be a good place to post about Von Hippel-Lindau syndrome? I have it and I would like to create a community on Discord for patients and their loved ones.

So I've been diagnosed with VHL, since my father also had been and I'm being checked up every year for tumors on various organs. There's no community where I feel like I can share what I'm going through, since it's a rare-enough disorder that you do not meet people who have it.

Would this be an okay post to live here? Since I think a lot of the patients might be looking it up on this subreddit.

Thanks and sorry if it's not suitable.

3 Comments
2024/02/05
22:53 UTC

1

Testing

What companies would you recommend for testing? Looking to hunt for a reason my health is falling apart and doctors have no answers so this something I would pay for myself

5 Comments
2024/02/05
20:33 UTC

1

Why do some people have indeterminant genetic sex?

In multiple studies where large groups of sequences are considered, there is a plot of chrX homozygousity/chrY call rate, but the researchers always claim that those with high chrX homozygous and low chrY call rate are unable to be determined, is this just a matter of thresholds for Y call rate being too high or is there something else going on? https://www.researchgate.net/figure/Proportion-of-homozygous-genotypes-on-the-X-chromosome-vs-proportion-of-nonmissing_fig1_345235580

4 Comments
2024/02/05
20:01 UTC

21

Any theories as to why the exact same specific phobia runs in my family, 3 generations now?

Hello! I’m looking for any scientific explanation that could potentially explain this. I know about how epigenetics relates to the “inheritance” of PTSD and wonderr if this is similar.

It started with my aunt, at least from what I know. She is 70 now, and when she was in elementary school there was an incident where a kid in her class vomited everywhere. This, for some reason, traumatized my aunt so severely and she even still remembers the kids name and what he (and the vomit) looked like. After that, she became so terrified of herself or other people vomiting that at 1 point when she was around 11 or 12, she was hospitalized for anxiety related to vomiting over Christmas because she was refusing to go to school, fearing she or another kid would vomit, and my grandpa had to physically carry her to school.

My mom is 9 years younger than my aunt, so my mom must have been born at or shortly after the phobia developed. My mom grew up with my aunt as more of a second mom to her because of the age difference. As the younger sister, my mom wanted to be just like my aunt and copied everything she did, including the intense phobia of vomiting 🙃🙃 my mom was also terrified of it her entire childhood. She said her grandpa got car sick 1 time, and my mom was so scared that she took off running down the highway!!!! My mom actually “grew out” of the phobia after getting older and having kids. Although she doesn’t display it herself anymore, the topicc of vomiting was still always discussed and catastrophized in our house. We never got in trouble or anything when we were sick, but my mom kind of portrayed it like “nobody go near insert name here because she’s sick and puking”. Probably just didn’t want it to spread to all of us.

There are 4 of us daughters. Myself, and 2 of my sisters have the phobia very badly. Only 1 of us doesn’t. My oldest sister and I were pretty much born with it and can’t remember ever not being terrified of it. Whenever I got sick I’d have panic attacks and still do. I’m almost 28 now, and I’m actually a nurse lmao and a mom, both of which have significantly helped my phobia in terms of other people vomiting, but I still have panic attacks if I even feel remotely nauseous myself. My two sisters with it cannot even watch people get sick on TV.

I’m so curious if there’s any genetic/psychological/scientific reasoning, for why this phobia would run in my family? My aunts two daughters (my cousins) also have the phobia, but that would make sense growing up with my aunt as their mom. However, they still have it into their adult life, and now, my cousin’s daughter (10) has it.

17 Comments
2024/02/05
19:16 UTC

0

What are the genes 8, 13 and 14 responsible for?

Heya, I'm trying to do some research on genetics and I'm curious. If it's okay, I'd also like to know what genes effect being in love. Thank you

23 Comments
2024/02/05
01:00 UTC

2

Degree options

Hi! I just graduated with my Masters degree in human genetics and genomics. I am having trouble looking for a job that uses my degree. I would like to be done with school but am not opposed to testing/certifications.

Any suggestions?

1 Comment
2024/02/03
22:44 UTC

2

At exactly what point does recombination frequency become an unreliable predictor of genetic distance (mu)

I was doing a textbook problem that required me to figure out if 2 genes are linked via chi square and then figure out the distance between them in mu if they were linked. I got a result of 40 mu, and the next question asked me if I think this distance is accurate or not. I know that once you start getting results near 50 mu, it becomes almost impossible to determine the distance between 2 genes since 50% recombination is the limit, but is 40% recombination frequency too high to be an accurate predictor of distance between genes? Is there some sort of agreed on RF value below 50% that's considered 'untrustoworthy' or is every RF value under 50 mu an accurate predictor of genetic distance?

5 Comments
2024/02/04
18:53 UTC

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