/r/genetics

Photograph via //r/genetics

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

Genetics, genes, and genomes

Frequently asked questions

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  1. Be nice - No trolling, personal attacks, hate speech, bullying, harassment, etc.

  2. No spam - Posts from accounts <7 days old and with <5 karma must be manually approved.

  3. No promotions or advertisements without moderator approval - This includes crowdfunding, online courses, personal genetics testing services.

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

  5. No pseudoscience or misinformation

  6. No medical questions - We are not equipped to provide medical advice. Please see the pinned readme thread for details on this rule.

  7. No homework or study help posts outside of the megathread - Please see the pinned megathread for guidelines.

  8. No posts containing just personal ancestry/genetic testing results - Posts for help with interpreting such results should contain a specific question and will be removed if covered by the FAQ.

  9. Directly link to research studies - Videos, press summaries, or news articles discussing a specific study must be accompanied by a link to the study in question.

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

/r/genetics

86,403 Subscribers

2

Can someone kindly assist in our balanced translocation results?

Hi there! My husband and I recently discovered we BOTH have balanced translocation (I know!). After 3 years, 4 failed transfers, and 6 embryos - we were given the news.

We understand this means our family planning just got (a LOT) more complicated but we’ve been told there’s still a chance.

Would greatly appreciate if anyone could help us understand our results a little better.

46, XX, t (4;14) (q25;q23) 46, XY, t (2;4) (p15;q21.3)

Thank you for taking the time to read this.

1 Comment
2023/03/27
00:38 UTC

1

Is there a Cro Magnon genome available for analysis?

1 Comment
2023/03/26
19:53 UTC

15

If the inner membrane of the mitochondria is impermeable, then how does mtDNA fragments leave the mitochondria to enter the nucleus?

So it known that the mitochondrial inner and outer membranes have contrasting permeability characteristics. The outer membrane is non-specifically permeable to all low-molecular-weight solutes, whereas the inner membrane is impermeable except through specific transporters.

However, since there are studies like this that says mtDNA fragments from mitochondria can migrate and enter the nucleus, if the inner membrane of the mitochondria is impermeable, then how does mtDNA fragments leave the mitochondria to enter the nucleus? So the mitochondria membrane is still permeable then? Can foreign DNA fragments also across the mitochondria membrane to enter the mitochondria genome through specific transporters?

7 Comments
2023/03/26
16:56 UTC

0

Question about ancestry testing/genetics

Hi, I just have a quick question related to genomics and ethnicity. I saw on a popular TikTok channel called AncestryBrew that Italians are very similar to Spaniards, citing a number roughly around 0.03% (there were a lot more decimal numbers after the 3), and that Pontic Greeks are less than 0.01% different from the Turkish Trabzon people. I’m a bit confused by this information as I thought humans vary by roughly 0.1% of the genome, and thus that siblings would be 0.05% different from each other as they share about half of their alleles. Based on this it seems that frequently ethnicities are on average more similar to each other than two individual siblings, with some nearing the degree of similarity we see in identical twins! Basically I’m super confused by this information lol (plus I remember seeing that most variation is in-group as in between individuals, rather than out-group, which makes this even more confusing). I really appreciate any help!

3 Comments
2023/03/26
16:52 UTC

0

Very good convo!

1 Comment
2023/03/26
12:52 UTC

25

Just found out the DNA sample sent in for genetic testing two years ago wasn’t viable

I’m not entirely sure how to deal with this information and could use some advice. Sorry if this is the wrong place to inquire.

I sent in DNA two years ago for genetic testing (WES). The process from the start was sketchy. First they didn’t send the right kit, then they sent a kit with missing parts but at that point it was just annoying and nothing more. It then took them 6 months to result and they never gave us the result specifics for myself or my parents who also submitted DNA. The doctor couldn’t locate it either. We requested they result any and all mutations whether they were pathogenic or not for myself and parents. I am Ashkenazi and so is my mother so it is more likely than not that there would be incidental findings due to the ethnic history. I had not a single mutation anywhere in my DNA. None. Mind you we never got the results of my parents.

We found this odd but went on our way.

About 8 months ago the genetic counselor requested my WES be resequenced. Fine. 16 weeks passed (the maximum the test should take) and we hadn’t heard anything. Two more weeks and we finally reached out to the genetic counselor and she messaged the testing center who responded that there was an “administrative delay” (which she had never experienced before) they were under the impression we were sending in a new sample (they were suppose to go through my old test). She assured us this was just a mistake and she had fixed it. Four more months passed and a new collection kit shows up in the mail. No word from anyone.

Turns out they never had a viable sample. Why they didn’t inform us and instead gave us a report I have no idea.

Is this a common occurrence with genetic testing? Or did I just pull the short end of the stick?

14 Comments
2023/03/26
02:11 UTC

1

Ethics question

Accessibility to genetic testing is easier than its ever been, even WGS can be done without a referral from a professional. If a parent is worried about her offspring inheriting a hereditary condition, are there ethical issues she should think of when considering having her child tested?

12 Comments
2023/03/26
02:04 UTC

7

straight to curly hair

just super curious but, i’ve had mainly straight hair all of my life but as of the last summer my hair has become very curly and wavy and does not seem to look like it’s going to change. both of my parents have straight hair. why is this?

2 Comments
2023/03/25
20:14 UTC

15

Age at average conception in prehistor

A recent genetic study has determined that the female generation time across prehistory has been about 23.

Now, am I right in thinking that this is the age at average conception? Some pregnancies would have happpened in the teens, some in the 20s and 30s, some girls would have had one baby at 15 and then died, some women would have had 8 babies up until 45, and so on. If we took the average of all these conceptions it would come out at 23.

This is what is meant by the female generation time, correct?

Link to study: https://pubmed.ncbi.nlm.nih.gov/36608127/

33 Comments
2023/03/25
17:03 UTC

3

Could there be more than three dosage compensation mechanisms for the X chromosomes?

Apart from the main dosage compensation mechanisms for the X chromosomes that already exist in nature (inactivation, hyperactivation, semi-activation), my genetics professor told us to think about another one that could potentially exist in nature. I was thinking about transcription and that certain epigenetic mechanisms could compensate for the dosage concerning the XX female and XY male so that the doses are equal. Any other ideas?

2 Comments
2023/03/25
11:25 UTC

4

how ‘ai proof’ is a genetics degree

I’m in my undergrad currently and having a bit of a freak out about ai making my degree redundant. I know most jobs in genetics require novel thinking and couldn’t be taken over by ai, but I mean more just the job security overall. I’m more just worried about the job market becoming more competitive to a point where only the top 10% of people with a degree can even get a job, especially with the automation of lab procedures and the exponential increase in how good ai is at writing scientific communications and performing literature reviews, or it’s ability to write code maybe taking over a lot of bioinformatics careers/ meaning they can be done by 1 researcher instead of needing a whole team

sorry if this is silly just feeling a bit worried 😭

19 Comments
2023/03/24
12:01 UTC

1

Choosing an emphasis in Genetics

Hello! I am registering for a Genetics course and am able to choose an emphasis in human genetics and genomics or developmental genomics. What would some of the major differences be, and which is more useful? Thank you! :)

1 Comment
2023/03/24
07:44 UTC

2

Rare Hemoglobin Variant (Hemoglobin Old Dominion) - thoughts?

Hello! This is quite a niche question for geneticists/anyone who may be intrigued by a mysterious variant.

In pregnancy I was found to be a carrier of Hemobglobin Old Dominion (Burton-on-Trent), an apparently rare Hb variant - I don't think it will have any clinical significance for me (I hope) and none for baby as his father has no Hb variants. However: My dad recently passed away from heart failure/ cardiomyopathy, the cause of which was unknown. Before his HF diagnosis, he was found to have iron overload and underwent phlebotomy treatment for a good long while. I'm wondering whether he was carrying this Hemoglobin gene (as I obviously inherited it from someone!) and whether for him this gene could have caused the iron overload. I've found that, though there's limited literature on this variant, it's been linked to beta thalassemia. Could my dad's gene variant have led to iron overload and his heart failure?

6 Comments
2023/03/24
06:35 UTC

1

Are all West Eurasian genetic components considered Caucasian?

For eg , Zagros Neolithic farmers are closer to Caucasian hunter gatherers , so are they also called Caucasian?

4 Comments
2023/03/24
03:05 UTC

3

Admixture of the Maya people of Mexico and Guatemala

0 Comments
2023/03/24
02:02 UTC

1

Pile Up Regions/False Matches?

So, I’ve been doing a bit of research

I have many Jewish matches on gedmatch and ftdna that match me from 12-27 centimorgans. I’ve been trying to look through this, as Im of predominantly northwestern euro descent from Appalachia, with some distant Romanichal heritage from the UK.

On 23andMe, on chromosome 22, (as well as on ancestry, gedmatch, etc), i consistently get very high traces of middle eastern and broadly southern European. 23andMe places it as Greek and Balkan, with just “broadly southern European” and unassigned, while gedmatch places it as mostly eastern Mediterranean and Red Sea. I also see the exact same thing on chromosome 15, and the starts and ends of chromosome 1. Chromosome 15 usually is between 27,000,000 and 30,000,000. Chromosome 22 and 19 are all over the place.

On these exact segment of dna, I get multiple Jewish matches. They all match at between 10-27.6 centimorgans, and all match each at the same rate, often on the same exact spots.

What I’m wondering is, is this noise? False matches? Pile up regions? I thought they were originally but I feel like that can’t be entirely correct. There’s far too many matches, and many of them match my mother as well.

I also have noticed many of my matches on chromosome 15 on 23andMe, tend to get traces of ashkenazi Jewish or Italian on their results. Nothing above 1%. But it is interesting considering my match list.

3 Comments
2023/03/24
01:54 UTC

0

Does anyone here have experience with the CERVUS parentage assignment software and RADseq data (SNPs) as an input?

0 Comments
2023/03/24
00:28 UTC

1

Are you guys into or there are a discord community about genetic engineering and other related topics of Synthetic Biology ?

[FOR MODS] The other subreddit about Genetic Engineering don’t let me post there. If I broke any rules let me know.

Let me introduce my self first, I work in Plant Enhancement, I am a Agronomical Engineer and I am here to invite the next generation of Genetic Engineers

So 2 years ago as I begun my journey in this field I have to deal with a ton of problems that can’t be resolved just by my force of will. Many of this knowledge is either blocked by companies or by a rigid and labyrinth bureaucracy.

As I delve into this field I could grasp more information about methods and other things about genetic transformation, I see many people deal with the same issues.

So I just created a community in discord for sharing methods, discussing biochemical path ways, discussing methods of transformation . (Like a open source code but for genetic transformation)

If anyone have any desire to make this community happen let me know in the DM

For legal reasons I am banning Human Transformation

4 Comments
2023/03/23
21:32 UTC

1

Protein equivalence between two externally-identical proteins?

Imagine I have two complex proteins A and B which, for the sake of argument, are shaped like spheres. They both have identical outer structure: atoms, bonds and bond angles, and electron availability. They differ just slightly, however, in the arrangement of bond angles deep inside the sphere. This difference does not telegraph to the proteins' boundaries.

Because these proteins are externally identical, does this difference "on the inside" have any effect on the organism using these proteins?

To summarize; does a change to a protein's internal structure matter if its external structure is unaltered?

(I am not a biologist)

4 Comments
2023/03/23
20:22 UTC

304

Just know if this post makes you smile, it will make someone else frown 🙂🙃

10 Comments
2023/03/23
15:24 UTC

0

Why does a child with an east asian dad and white mother look east asian. And a child with a white dad and an east asian mother look white?

Why does a child with an east asian dad and white mother looks asian. And a child with a white dad and an east asian mother look white? The examples I look at are from tiktok and it always follows this pattern. The tiktokers show their parents and suprisingly I could guess the ehtnicity of the father depending on the childs phenotype with suprising accuracy from intuition.

7 Comments
2023/03/23
13:31 UTC

12

Beethovens wasn't poisoned after all

Researchers figured out Beethoven died for liver disease and wasn't poisoned by his doctor. Pretty amazing stuff!! Though kinda sad the poor guy might have also drunk himself to death. I wonder what other celebrity health and death mysteries we could solve with this technique. https://theconversation.com/we-used-dna-from-beethovens-hair-to-shed-light-on-his-poor-health-and-stumbled-upon-a-family-secret-202440

1 Comment
2023/03/23
13:22 UTC

0

What are the chances of me passing down my retinitis pigmentosa to my child?

I have been diagnosed with retinitis pigmentosa a couple of days ago. My parents didn't have it so it's autosomal recessive in them and autosomal dominant in me? Or is it autosomal recessive in me since they didn't have it. Anyway, I just want to know the odds

I don't have children but I was planning on having them. Seems like I might not be able to.

2 Comments
2023/03/23
09:13 UTC

3

Less than 10% of rare genetic diseases (RD) have FDA approved treatments. We are on a mission to change that through advocacy; we released a mashup remix with track of on what it means to live with a rare disease: never give up. Track is designed to get people moving while raising awareness for RD.

2 Comments
2023/03/23
02:34 UTC

8

Internship

Hey all, I’m currently a Genetics and Cell Biology Student at WSU. I was wondering if you had any advice on what internships are looking for in a candidate?

Also, if you have any ideas on who’s hiring right now, I’d love to hear.

0 Comments
2023/03/22
21:45 UTC

1

Looking for someone knowledgeable on genetics to interview

Hi there, I am looking for someone knowledgeable on genetics to interview for a paper. Is anyone available?

1 Comment
2023/03/22
21:26 UTC

46

Obituary: Casey Brown

Some of you may have known Casey personally from ASHG conferences, CSHL genomics courses (he held a virtual lobster dinner for the off-site one), or parasocially from his Twitter posts.

For those who didn't know him, many of the academics on this sub are likely familiar with Casey's foundational work on allele specific expression, eQTLs, and his leadership role in GTEx, but may not have yet heard the awful news of his untimely death.

Casey was the archetypical gregarious Midwesterner who easily formed deep and lasting personal connections. An incredibly incisive mind who could spot flaws in a paper, hypothesis, or experiment, but who never projected those flaws on the humans involved - something all of us should strive to match. He was a tireless advocate for trainees, for scientific rigor, and for fun. A dad, brother, son, and a great friend.

His death is an incalculable loss to the field of genetics. We should have had 4+ decades more of his wisdom, humor, and insights.

https://genetics.med.upenn.edu/the-loss-of-casey-brown/

0 Comments
2023/03/22
14:40 UTC

5

Can I get some input on this?

I have been doing a little research on CRISPR lately, and I was wondering: Would there be a use for it in gender affirming hormone therapy? Because from my basic overview so far it seems very promising, not in completely changing sex, of course, but maybe changing the hormone produced or the way your body responds? I just want some wide opinions please, would this be feasable?

5 Comments
2023/03/22
12:34 UTC

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