Does somebody have NQO1 Gene Null (NQO1 rs1800566 (C609T) TT))? If yes do you have any noticeable health issue?

Hello as the title suggests genetic engineering sounds really interesting to me and im a junior in highschool but i dont know much about it. I have some questions like is the pay worth it, is the job fulfilling, what level of education does it need, what kind of work do they do, how is the job market. Things like that

Let's just say that hypothetically, I knew about an ancestor from 15 generations ago. Even though that would never show up on a test, would that DNA in the absolute most miniscule way be in me at all? Like, is it possible to be 0.0000000000000001% of something but sense it's so small, it just doesn't show up?

Recently got a new puppy from a breeder who owned the Dame. They got it bred by a stud from a different owner who is a professional breeder. I was aware of the sire’s lineage but not the Dame’s. Long story short I AKC registered my pup and got its lineage.

I found out the Dame’s dad and the Sire’s grandpa is the same dog. Should I be concerned if any genetic issues from inbreeding?

CU Anschutz researchers are seeking volunteers who are currently pregnant with a fetus identified to have a sex chromosome aneuploidy, such as Klinefelter syndrome (47,XXY) and Turner syndrome (45,X), to participate in a study using the umbilical cord which is normally discarded after delivery. Participation is voluntary and involves sample collection at delivery. Please contact [[email protected]](mailto:[email protected]) for details or visit our website at XY Umbilical Cord, where our flyer is also posted!

I built an open-source tool exploring PCSK9/LDLR/APOB variant interactions in familial hypercholesterolemia, looking for feedback from people who work with this biology directly.

The pipeline uses Elastic Net + SHAP to estimate variant impact, and QAOA quantum optimization for combinatorial SNP selection. All validated with negative control genes and population-level error analysis.

I'm a DevOps engineer, not a geneticist. FH runs in my family, so I built what I could with the skills I have. Now I need someone who knows the biology to tell me what I'm missing.

Synthetic data only, research use only.

Repo: https://gitlab.com/Projgadesk/qfh-explorer

I know meiosis occurs roughly its 50/50 to have a girl or boy. But tbh I don’t think it’s just 50/50, for example my dad’s side of the family can ‘only seem to produce girls’ my dad had 7 girls (some with different partners), and my paternal grandparents had 6 girls and 2 boys, and my dad’s only brother had 5 girls before he had a boy, and that son only had daughters- it might seem to be like a coin flip or by chance. Interesting enough one of my teachers has 3 boys, but he said he was one of 9 boys and 1 girl. Is there any reason why this can happen- or is it REALLY by chance.

Basically my son has recently been diagnosed with a syndrome KIF4A and I have had little to no information about it from our genetics counsellor. We waited for about 12 years for a diagnosis. Can anyone point me in the right direction. I have searched for genetic groups and this is the only one I can find.

Thanks for reading xx

I was having a discussion with someone... And they cited so many points including: humans having F_st scores higher than many animals who have lower F_st scores and yet qualify as different subspecies, humans having visible traits that differentiate from each other based on geography, there being humans who were genetically or geographically isolated for tens of thousands of years, IQ scores remaining intact even when a geographically ancestral people live and grow up in another country, it being possible to plot accurate ancestries through 23&me by analyzing the individual's genome, and so much more.

I am against racism, so to speak. But he raised so many points to which I need answers. Kindly give me the counter points to these points.

I'm a Year 11 student in Australia and i’m interested in becoming a research geneticist in the future, but I'm struggling to figure out the best path to get there.

Which bachelor's degree would you recommend? 

I saw this polydactyl cat today, and I thought his little thumbs were cute enough to share.

Dogs have different breeds with different characteristics like intelligence, size, smelling power and stamina but why don't humans have it?

My 14 month old daughter has just been diagnosed with this syndrome. From what I understand it is incredibly rare, but I’m wondering if anyone on here has seen a patient with it. I also understand its presentation is incredibly varied and no two cases will be the same. It would just be nice to know if there are others out there, how they are doing, that sort of thing.

If anyone has any questions about PCWH syndrome or my daughter I’m happy to answer them.

For many people living with rare genetic conditions, getting a diagnosis can take years. They may visit multiple specialists, undergo countless tests, and still be left without a clear answer.

The interesting part? Sometimes, the clue has been hidden in their DNA all along.

Advances in genetic testing are helping uncover variants linked to rare conditions, giving some patients and families a clearer understanding of what may be behind unexplained symptoms. While a genetic result doesn't always provide every answer, it can sometimes help guide further evaluation, treatment decisions, and family counseling.

It makes me wonder: How many people with unexplained or complex conditions could benefit from genetic testing but have never been offered it?

Would you consider genetic testing if you had symptoms that remained unexplained for years?

For example, my family has a history of bowel disease. How can researchers tell whether that's because we share the same genes, or because we share the same diet and lifestyle?

Some traits are obviously genetic, like eye colour. But what about things like height, or diseases that you develop later in life? How do scientists work out how much is caused by genetics vs environment?

1. Is it rare for people to present with homozygous dominant alleles if we were to narrow our vision to a population with monogenic disorders?

This is a query because I hardly see inheritance being described for these cases and see statements like “ when an affected and an unaffected person reproduce, each child has one chance in two of inheriting the mutated allele from the affected parent and developing the disease” which only makes sense for heterozygous cases. I feel like I’m misinterpreting something.

1. Likewise, this statement regarding autosomal recessive disorders confuse me as well - “ siblings have one chance in four of having the trait” . But this , I’d like to assume , is a blanket statement.

These are all cited from Robbin’s, verbatim. I’d be extremely grateful for any clarity regarding these queries.

Edit: there were some mistakes in the post as I’d used the voice to text transcription so I’ve corrected that

Hi guys the headline sums it up. I isolate leucocytes first and use spin columns to isolate RNA from it so I can do QPCR BCR-ABL1 test for screening p210, p230 and p190 fusion transcripts. But this isolation process takes so much time and I am searching for a faster alternative. We asked the companies of their RNA isolation systems and they said the commercial nucleic acid isolation kits for magnetic bead systems might work and we just need to add DNase to the samples when loading. Does anyone use this RNA isolation method?

We can make sure our future children don't have to suffer, and that they are all born to healthy and happy parents. In several generations, our descendants will be much stronger and healthier than we are at present.

I’m building a small set of guided home genetics experiments (step-by-step with pictures, not just a recipe dump).

So far I’ve got:

1. Strawberry DNA extraction (kitchen soap + salt + alcohol — the white fluff at the interface)
2. PTC tasting + a mini family pedigree

What other safe, low-cost genetics activities have you done with kids / students / at home that actually taught something?

How accurate is 23 & me in their genetic testing? I uploaded my raw data to Genetic Genie and apparently I have a mutation that could cause me to get ALS in the future.

I'm O negative and was discussing blood types with my parents due to being pregnant and requiring shots to stop my body attacking baby.

Mum said she is O positive so didn't have those issues. I know this is true because she donates regularly and has a key ring.

Dad said he is sure he is AB, but not sure if positive or negative.

How is it possible they produce me as O negative?

I didn't pay attention that much in school but didn't think this is likely? How would this work?

We are all Caucasian living in Australia.

Hi everyone,

I’m 27 years old and recently had hereditary cancer genetic testing. My BRCA1 and BRCA2 results were negative, but I was found to have:

CHEK2 c.176C>A (p.Thr59Lys), heterozygous, Variant of Uncertain Significance (VUS).

My report says this variant is rare (about 0.004% in population databases) and that it has been reported in some individuals with breast, ovarian, and colorectal cancer, but there isn’t enough evidence to know if it’s actually harmful or benign.

I’m wondering if anyone else has this exact variant or has family members with it.

My family history includes:

● Dad: bladder cancer

● Grandmother: pancreatic cancer

● Aunt: ovarian cancer

● Aunt: breast cancer

If you have this variant:

● Has it ever been reclassified?

● Did your genetic counselor tell you anything helpful?

● Has anyone else in your family been found to have CHEK2 c.176C>A (p.Thr59Lys)?

● Does your family have a history of cancer, and if so, what types?

I’m not looking for medical advice or a diagnosis—I’m just hoping to connect with anyone who has experience with this exact CHEK2 variant because there doesn’t seem to be much information available.

Thank you so much!

Maybe not the best place to ask this, but can you guys share some links or pages or tell me where I can look up genetic problem questions. I have a final in human genetics course, where my proff. focuses afc on probability and heredity of diseases, got bad marks on the tests before, and have to do good in this final.

I'm really anxious, and need to practice, can't find anything.

Also don't know hot to approach an essay question.

I'm lost

Thank you.

Sharing this opportunity for early-career researchers.

The AGBT Precision Health Next Gen Leadership Awards are accepting applications from graduate students, postdocs, medical students, and early-career researchers working in areas such as genomics, precision health, bioinformatics, computational biology, and AI in healthcare.

The award provides: conference registration, hotel accommodations, and travel support.

Application deadline: July 21 (11:59 p.m. CST)

For more information visit agbt precision health website.

Hi All, I am interested in getting Genetic Counselling and testing for myself and would be paying this out of pocket. I am coming from the Caribbean and wanted to know if there was anywhere that would allow me to do Genetic Counselling virtually and then when I go to New Jersey in August for a few days I can do the necessary testing?

I have a strong family history of cancer, many autoimmune conditions and personally struggle with stomach issues and many other thing. Heard people mentioning Invitae? Is that something I should look into and will they test foreigners?

Also if anyone knows a company that would assist with cost because of my lower level income would be great especially as a foreigner coming for testing.

Any advice would be greatly appreciated! :)