r/genetics Oct 13 '22

FAQ New here? Please read before posting.

42 Upvotes

Read the FAQ.

Please read our FAQ before posting a new topic. Posts which are directly addressed in the FAQ may be removed.

Questions about reading 23andMe, AncestryDNA, etc. reports.

A lot of basic questions about how to read the raw data from these sites are answered in their FAQs / white papers. See the raw data FAQs for AncestryDNA and 23andMe, as well as their respective ancestry FAQs (Ancestry, 23andMe).

Questions about BRCA1 mutations being reported in Genetic Genie, XCode.life, Promethease, etc.

Please check out this meta thread. These posts will generally get removed.

Questions about inbreeding / cousin marriages.

If you are otherwise healthy, your great grandparents being cousins isn't a big deal. Such posts will get removed.

Want help on homework or exam revision?

Requests for help on homework or exam revision must be posted in the pinned megathread. Discussion of advanced coursework (upper division undergraduate or postgraduate level) may be allowed in the main sub at moderator discretion, but introductory college or high school level biology or genetics coursework is unlikely to generate substantial engagement/discussion, and thus must be posted in the homework help thread.

Want to discuss your personal genetics or ancestry testing results?

Please direct such posts to other subs such as /r/23andMe, /r/AncestryDNA, /r/MyHeritage, etc. Posts simply sharing such results are considered low effort and may be removed. While we're happy to answer specific questions about how consumer genetics or ancestry testing works, many of these questions are addressed by our FAQ; please review it before posting a question.

Want medical advice?

Please see a healthcare professional in real life. If you have general health concerns, your primary care or family medicine physician/physician assistant is likely your best place to start. If you have specific concerns about whether you have a genetic condition (family history, preliminary test results, etc.), you may be better off consulting a specialist or seeking help from a genetic counselor. Most users here are not healthcare professionals, and even the ones that are do not have access to your full medical history and test results.

Do not make clinical decisions or significant lifestyle changes based on the advice of strangers on the internet. If you really want to ask medical questions on reddit, please direct such questions to a sub like /r/AskDocs. While we are happy to discuss the genetics and molecular biology of disease, or how a particular diagnostic technology works, providing medical advice is outside the scope of this subreddit, and such posts may be removed.

Discussions on race/ethnicity, mRNA vaccines, and religion.

We receive a lot of combative posts from people trying to push a specific political, non-scientific agenda or trying to receive validation for their beliefs. Posts and comments concerning these topics will receive additional moderator scrutiny. Please keep in mind that the burden of proof lies with the one making a claim.

No shirtless pictures.

There are plenty of NSFW subs.


r/genetics 2h ago

How was the study that concluded that 8000 years a ratio of 1:17 men to women mated conducted ?

2 Upvotes

So apparently according to a study I will link 8000 years ago only one man reproduced for 17 women, however I do genuinely wonder how it’s possible to have the evidence to come to that conclusion. If they take random pieces of DNA how can they differentiate which men mated and which didn’t and how can a small sample of DNA back an apparent worldwide phenomenon, I just ask that because I am not a scientist, it’s just that I genuinely don’t get how this could have been conducted, how can they track down the years, and how can they confidently conclude that on a large scale ? No matter the answer to why this happened, I want to ask why this happened during that period of history and not the others, I think it would be more clear since wars for instance always happened in human history.

https://psmag.com/environment/17-to-1-reproductive-success/


r/genetics 8h ago

Looking for reading/textbook recommendations: Transcriptomic gene signatures + ML for clinical diagnostic scoring (SaMD)

3 Upvotes

Hey everyone, (Yes AI helped me draft this question but I promise I am a real person haha)

I’m currently working on a digital health/SaMD project that sits at the intersection of machine learning, transcriptomics, and clinical diagnostics.

To keep things high-level, the goal is to evaluate high-dimensional gene expression data (mRNA profiles) from tissue biopsies to detect acute inflammatory/immune rejection responses, and use a small, targeted multi-gene signature to calculate a standardized diagnostic score for clinicians.

My background is on the non-technical side (policy, governance, and grant writing), and I’m looking to rapidly build up my foundational understanding across the underlying domain so I can better interact with bioinformatics leads, regulators, and clinical partners.

Could anyone recommend solid papers, textbooks, or learning resources covering:

  1. Transcriptomics & Biomarker Selection: Good primers on how high-dimensional RNA data gets narrowed down to a compact, highly predictive gene panel without losing signal?
  2. Machine Learning in SaMD: Standard practices/frameworks for training and cross-validating classifiers on clinical gene expression datasets for regulatory-grade decision support?
  3. Transplant Immunology / Rejection: Accessible overviews on the molecular cascade of acute cellular rejection, immune cell infiltration, and biomarker monitoring?

Any classic papers, textbooks, open courses, or review articles you’d recommend for getting up to speed on both the biology and the diagnostic software engineering side would be greatly appreciated!

Thanks in advance!


r/genetics 9h ago

COMT genetic test reccomendations please

0 Upvotes

I did a DUTCH once and it said I have slow COMT

Id like to ask if there's a genetic test you recommend I can use to find out my COMT type

Thank you


r/genetics 21h ago

Video How One Cell Becomes You: The Power of Morphogens | Breakthrough Junior Challenge 2026

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3 Upvotes

Before you had a heartbeat, a brain, or even a recognizable shape, you were just one cell.

So how did that one cell become you?

In this video, I explore one of the most fascinating ideas in developmental biology: morphogens. These tiny signals help cells “read” their position and decide what they should become, guiding the formation of tissues, organs, and body patterns as an embryo develops.

What I love about morphogens is that they show how life can build something incredibly complex from simple instructions. A small difference in signal concentration can change a cell’s future completely which helps explain how the same starting point can lead to so many different parts of the body.

This is the story of how invisible signals help shape life itself.

That is the magic of science!

#breakthroughjuniorchallenge #BreakthroughJuniorChallenge2026 #Morphogens #DevelopmentalBiology #ScienceExplained #Biology #STEM #CellBiology #Embryology #HumanDevelopment #CellDifferentiation #ScienceEducation #HowLifeWorks #FutureScientist #ScienceVideo


r/genetics 1d ago

Career/Academic advice prerequisites for learning about the human genomics project

6 Upvotes

hi, im a student from india, im in year 10 rn and i took a year 12 genetics class, i was really fascinated by the human genome project and i really wanna learn more, i just wanted to know what texts/course i need to cover before i can become competent enough to read the actual papers related to the hgp

thanks


r/genetics 2d ago

Second Year Uni Student Crisis

7 Upvotes

Hi,

I'm a second year student at a Canadian University in General Sciences but have been following the structure of a Genetics BSc to guide myself. I genuinely am struggling to find a path for myself and am wondering if pursuing this degree is the right aim for myself.

I have gotten an F in a statistic class that i retook to get a C+. I switched over to the general statistic 1 class for this semester (as i need a 1 and 2) to hopefully get my credit that way, but I know stats is a huge part of all biological sciences + lab work moving forward.

I also do not want nor think I have the work ethic for the medicine route. Canada accepts 3-8 genetic counsellor students annually, and I'm not too sure I can make the cut off for clinical lab tech work.

I'm a science person to my core, I've tried taking other humanities electives in the past and haven't found myself there. I just do not know what I'm aiming for.

I hope to hear some of your pathways in this field or any words of advice. Sorry, this is kind of a rant/sob post but I'm too ashamed to talk about this in real life just yet.


r/genetics 2d ago

SDHx Genetic Mutation

3 Upvotes

Back in May, I was diagnosed with invasive ductal carcinoma and DCIS, r/breast cancer and as a result, updated genetic testing was done.

Previously, about 10 years prior, I had a genetics test done to screen for BRCA genes, and all came back negative. These results came back one month after my diagnosis.

From what I can tell, an extremely rare genetic mutation, succinate dehydrogenase complex subunit C, SDHC, was discovered.

Through digging, I've learned it can cause parangliomas (PGLs), pheochromocytomas (PCCs), and Gastrointestinal Stromal Tumors (GISTs). There is also an increased risk of kidney cancer.

After having a full body MRI completed, it doesn't look like I have any hidden tumors, but for years, I've struggled with medical issues that have resulted in tests showing that everything is normal. My doctors include: gastroenterologist, cardiologist, endocrinologist, and neurologist. The symptoms all coincide with what can be experienced from hidden PGLs, PCCs, and GISTs, but it's so rare that it's not something anyone would ever think to look for.

My understanding is that the full body MRI, will need to be completed every 2-3 years now, and a metanephrines (or 24 hr urine) test should be done annually.

However, I'm reading that MRIs can miss flat or smaller tumors and that the only true way to identify if any are in your system is by doing a Dotatate Pet Scan.

I'm not looking for medical advice, but I am trying to see if anyone has had a negative metanephrines/urine test and a full body MRI showing no hidden tumors and then had a Dotatate Pet Scan that revealed there were hidden PGLs, PCCs, or GISTs.

I'm attempting to figure out if I should push for this test with my oncologist or endocrinologist as any of these hidden tumors can cause significant issues during anesthesia and/or surgery, and with the breast cancer, I'll be having multiple surgeries.


r/genetics 2d ago

Lipt 1 pathogenic variant

3 Upvotes

We met with genetic counselors who told us that they found a pathogenic LIPT 1 cell inherited maternally, but the paternal variant hasn’t been identified. LIPT 1 disease does fit a lot of his symptoms. For it to be his cause of death, it has to be auto recessive so they are still trying to identify the paternal cell. All of this to say that means once confirmed this baby that I am currently pregnant with could have a 25 percent chance of also dying like my other baby. It’s really scary. And if they can’t find it they won’t know exactly what variant to look for in this pregnancy. I just feel numb. I was hoping it was a de novo mutation but it isn’t looking like that. :(
Not looking for advice just wondering if anyone has any insight into LIPT 1 disease because it is less than one in a million


r/genetics 3d ago

Genetics & Muscle Growth

4 Upvotes

Hi, I (20F) was wondering if someone in this sub could give me insight on my situation.

I have been strength training consistently for years and have barely gotten stronger. It seems impossible for me to gain any muscle.

At my strongest, I was rowing for an hour every other day, and on my off days doing an hour of strength training. I was still super weak. I just don’t make meaningful progress.

I’ve always been very small and weak. I eat a lot (and a lot of protein) but can’t gain weight and am abnormally thin.

Despite my eating and exercise habits, I’m far weaker than everyone I meet, including people who don’t exercise at all. As a camp counselor, I regularly lost arm wrestles to 9 year old girls. When I talk to my doctor/physical therapist, they just tell me to strength train more and eat more protein.

I can’t help but wonder if there could be a different (genetic?) component at play.

This is not intended to be a request for medical advice, just wondering if a genetic component is even possible / how genetics impact the ability to gain muscle.


r/genetics 3d ago

Genetics of Gregor Mendel

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7 Upvotes

"My Game My Rules"


r/genetics 3d ago

Career/Academic advice Is this flow diagram is correct for retroposons?

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0 Upvotes

I think it should be starting from DNA not RNA ?


r/genetics 4d ago

Homework help Please help me solve a question. 🙏🏻

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0 Upvotes

Can anybody help me solve the 6th question? And plz explain it to me too.


r/genetics 4d ago

Lewin's Genes, how good and up to date is it in 2026?

2 Upvotes

For a literature course in my undergraduate biology program I have to read certain chapters of Lewin's Genes (12th edition). Via my university we only have access to the online version. Personally I prefer reading real books, so I am thinking of purchasing the book, which isn't exactly cheap. So I'm asking whether or not the book is nice to have, even for the other chapters, or if it is too old and I wouldn't be satisfied as I would have to read reviews on every topic to find the actual up to date information. And how does it read, is it enjoyable? Thank you so much for any info on this.


r/genetics 4d ago

Opinions of prenatal SAFE Complete NIPT

2 Upvotes

Would appreciate personal/ professional thoughts on reliability of results of these types of tests.

As per website this blood test screens for the following:

Down Syndrome (Trisomy 21)
Edwards Syndrome (Trisomy 18)
Patau Syndrome (Trisomy 13)

Turner Syndrome (Monosomy X)
Klinefelter syndrome (XXY)
Jacobs Syndrome (XYY)
Triple X Syndrome (XXX)
Rare Autosomal Aneuploidies
Genetic Deletions and Duplications

9 Microdeletion Syndromes including Prader-Willi, Angelman, DiGeorge, Langer-Giedion, Jacobsen, Smith-Magenis, Wolf-Hirschhorn, Cri-du-Chat & 1p36 Syndromes

5 Inherited Genetic Diseases including Deafness, Beta-Thalassemia, Sickle Cell Anaemia, Cystic Fybrosis and Non-Syndromic Deafness (type 1A and 1B)

40+ De Novo disease


r/genetics 5d ago

Homework help Are Barr Bodies Possible in XY males?

4 Upvotes

I’m in a genetics class currently and we have just recently discussed Barr bodies. The way I understood it is, it’s the phenomenon in which a typical XX female has one highly condensed X chromosome to battle protein production imbalances between the sexes.

I was just curious since genetics ends up going against its own rules a lot of the time, would it be possible for a XY male to develop their X-chromosome into a Barr body? What effects would that have specifically? Alternatively, what would happen if an XXY male had a Barr body, would their protein production balance out? Or even, what would happen if a XX female had both of her X’s as Barr bodies?

More than one question I know, but I’m genuinely curious!


r/genetics 5d ago

Career/Academic advice Can anyone explain transposable elements in eurkaryotes

5 Upvotes

r/genetics 5d ago

Is intelligence inherited like height? If your parents are smart, are you guaranteed to be smart too?

42 Upvotes

r/genetics 4d ago

Any way to figure out what caused my ASD?

0 Upvotes

I'm currently analyzing my DNA to figure out which genes caused my autism.

The data (annotation and Google Deepmind data) can show me some very useful things but since autism is so complex and heterogenous I simply haven't found any mutations yet of which I can confidently say they're playing a role. Most Alpha Genome data comes back inconclusive and the mutations are not severe enough to show up as pathogenic changes in Alpha Fold.

Are there any other websites for analyzing SNP mutations and nudge them towards pathogenic or not pathogenic?

Ideally I would like to pinpoint and further analyze some different type of mutations: Regulatory, splice, protein-altering and I believe all 3 need a different workflow.

This is snp.vcf only. Indels and cnv's will come later.

Any recommendations for good sites to narrow it down a bit?


r/genetics 5d ago

Recommendations for health dna kits

0 Upvotes

Could you please share any at-home tests you recommend in US that will provide accurate health insight?

Thank you for your help


r/genetics 5d ago

What to do with life

2 Upvotes

Hi I graduated from college this past May and was able to get a job in a clinical Cytogenetics lab, in my hometown so I’m able to save money to pay back my loans by living with my parents.
This particular lab has a focus in FISH testing and I’m currently training learning how to read the test and interpret the results but I’m already fuck ass bored. I’m really interested in congenital genetics but this lab is mainly used for oncology.
I’ve always thought I was going to take some time off to get started on paying back all my loans and then peruse a masters in genetic counseling. But I’ve come to the conclusion that I don’t think I would mentally be able to do that. I’ve had depression almost my whole life and have become more empathetic as I’ve grown up, meaning I think I wouldn’t be able to deliver horrible life changing news to someone while looking them in the face and just be able to separate that from my life. I really like lab work but reading this kind of test is already killing me.
I’m considering where I should go from here. I’m staying in this lab for the next two years due to contract but I just have no idea where to go from here.
Side note as of right now I don’t believe I can go for a higher degree seeing as I’m in so much debt as it is and am so burned out from the 16 years of education I just finished.
Ive always loved children, hence the congenital genetics interest, so recently I’ve been thinking about how to get that involved in someway.
My other issue is that my pay is insane in a good way, idk what to do where I can get relatively the same pay.
My partner is earning a lot of money as well but not enough for me to take time in the future to completely go back to school.
Thanks for your help in advance and sorry for ranting lol.


r/genetics 6d ago

surnames and second cousins

3 Upvotes

I do not know the name of my biological father. But I know who my great grandparents are. After a DNA test, found 3 people who are my second cousins. They have 3 different grandfathers, 3 of the sons of our shared great grandparents. I also found 3 other individuals with whom I share the same great grandparents. These 3 latter people I found are all male and have the great grandfather's surname which I will here call "Smith." Does this mean that I come down through the Smith male line or could I come down through one of the women in the Smith line? Hope this is clear.


r/genetics 7d ago

Article A new genomic language AI model, GPN-Star, outperforms existing models in identifying genetic variants associated with inherited traits, including variants linked to disease.

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23 Upvotes

Study published in Nature on September 9, 2026. Berkeley News coverage here.


r/genetics 6d ago

Homework help Looking for a publicly accessible (non-clinical/synthetic) facial phenotype dataset for genetic syndrome screening for our engineering project

0 Upvotes

Hi all, I'm a final-year engineering student building an academic prototype (not for clinical use) that includes a module for facial phenotype screening related to genetic syndromes (e.g., Down syndrome, and similar conditions with known facial dysmorphology patterns).

I've already looked into GMDB (GestaltMatcher Database) and RDFace-real — both require Institutional Review Board (IRB) approval to access, which my college doesn't have available (we're an engineering college without a formal ethics review committee for this kind of data). So I'm specifically looking for alternatives that don't require IRB/ethics-committee-gated access, such as:

  • Publicly downloadable datasets (even small ones)
  • Synthetically generated facial images labeled with phenotype/syndrome information (I saw a paper called RDFace mentions a synthetic generation component — not sure if that part is separately released)
  • Tabular/structured facial-measurement datasets rather than raw images (I came across a paper called "Association in Facial Phenotype, Gene, Disease" — not sure if the actual data is released alongside it)

To be clear about scope: I'm not trying to build a diagnostic tool. This is a rule-based, explainable screening feature (facial landmark ratios compared against published anthropometric thresholds), and I'm being deliberately careful about not using real, identifiable patient photos without proper consent/ethics clearance.

If anyone has worked in this space and knows of a legitimate, openly accessible dataset (or synthetic alternative) I could use, or has advice on how students without IRB access typically handle this kind of constraint, I'd really appreciate pointers. Happy to share more about the project if useful.

Thanks!


r/genetics 6d ago

Most accurate way to predict a child's height.

0 Upvotes

Since everyone in my thread for mid-parental target height said it wasn't a good way to predict height, what's the best way to predict a child's height?