I live in Kazakhstan (Central Asia) but I dont suck asians. I have a european eyes, hands, brown hair, the yellow thing in my ear slimy (Asians have dried up thing so for that there are peoples buy a special thing to remove that), long fingers , generally I suck europeans. My mum and dad borned in China and lived there. After 2006 they have arrived to Kazakhstan (Their nationality is Kazakh). So If you know , please tell me why ?

I watched a video from Family History Fanatics that said a person only has about 120 genetic ancestors. I don't know how to create links on my phone but it's the first video that shows up when you search for "120 genetic ancestors" in youtube. Is that claim true? Are exactly half of them male and half of them female? Are they equally divided between both sides of your family?

Preface, yes, I have searched a good amount and I’m not lazy and just want someone’s answer ya know. Just want links pertaining to my question if possible maybe insight from people within the profession.

Question: what is the rate of female vs male gamete production in humans, Is there observational data at a large enough scale to show some useful insight?

Question B: if there is some imbalance, has this been linked with some genetic trait? Potentially differences within a population

I know I could just google this but would love to hear from the people of Reddit.

Is there a strong link between genetics in life expectancies?

My maternal grandmother passed away at 56, Maternal grandfather passed away at 63. My maternal aunt passed away at 66. My mom passed away at 66. I have one maternal aunt alive, she is 70.

My paternal grandmother passed away at 72. Paternal grandfather passed away at 50. Paternal aunt passed away at 42. Paternal aunt passed away at 60. Dad passed away at 44. I have one paternal aunt alive, she is 62.

My parents died from smoking. Dad passed away from lung cancer and mom had some major complications due to smoke which caused her to have strokes (HBP and high cholesterol also played a factor). One of my paternal aunts passed away from ovarian cancer. My maternal aunt passed away after a stroke. She didn’t smoke but had diabetes she didn’t take care of, high blood pressure and high cholesterol.

I know so many people who still have grandparents in their 70’s +. My boss’s grandma just turned 101. I’m surrounded by people who are old enough to be my mom that still have their parents.

I can’t help but think, how do I outlive my 60’s. (I’m only 28 and should t be worrying about this. But seeing the trend and patterns. I feel like I’m halfway there) not to be morbid.

Hello I’m a parent of a child with Smith Magenis Syndrome, de Novo. I read scientific studies, research and basically teaching myself to understand how genetics work. As a mom, I want to make sure I can give her the best quality of life as she grows. Kinda disappointed that the research is mostly on sleep disorder or obesity. That’s the least of my worries tbh, the behavioral issues, aggression, ID, will not be independent in adult life- that’s what stresses me out. I wish there was a clinical study following the child to adult age. I know that’s expensive n nothing on clinical trials so far. Just need to vent as my hubby and I are navigating through this alone. Also what books or journals do you recommend for genetics? I finished my Masters so I’m not looking into getting another degree but don’t mind textbooks recommendations.

True*

Is this plausible? I have a copy of my raw DNA file- would I be able to send this somewhere to be sequenced & look for abnormalities? I am not savvy in the slightest when it comes to understanding how all of this works, so pardon my ignorance, just am wondering of my options vs. getting someone like Sequencing.com to test.

I've heard mixed reviews and can't seem to find a trustworthy option that won't cost me a kidney. Any tips appreciated.

For example, I can think of a couple off the top of my head who have three daughters, even though the father was hoping they’d have a boy at some point. I’ve also seen families where they have three or more boys. Why does this happen for some families, when there is supposedly an even chance of having either a boy or a girl?

Have several homozygous variations of nat2 and also homozygous hnmt. Been struggling post Covid with histamine intolerance which got much worse after my doctor but me on iron supplements for single digit ferritin. Any area how to proceed with this info? Thanks

Would people with late-onset Cobalamin C Deficiency always have high homocysteine and MMA results on their blood test? Or is it possible, that those blood tests could be high only later in life and when symptomatic?

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I guess that I'm asking if it is possible to catch every patient with late-onset Cobalamin C Deficiency even before they develop symptoms. And if someone had a low homocysteine and MMA test result earlier in life, would it rule them out from having late-onset Cobalamin C Deficiency in the future?

I'm currently being treated for what is assumed to be a Huntingtons-like Disease with present symptoms. I'm scheduled for a complete genome test, but it's not for 13 months (ugh).

The fact of the matter is that whatever I have, whether it has a known name yet or not, I have some type of neuro degenerative disease and my current treatment will likely not change according to my neurologist (specialized movement disorder clinic)

But not having a name to understand what the future looks like and how to properly plan is stressing me out, and with more stress, my physical reactions just ge worse and more often (generalized anxiety and chorea)

There is a company called Sequencing.com that runs a plethora of tests, of which do include the Huntingtons-like Disease genes. Price isn't horrible <$500 and results in 3-4 months.

What I've read on the company's website seems all good, but hell, I don't know a lot about any of this and can't interpret BS from truth.

Does anyone know about this company, have used it, happy with it, or needs to yell at me for being stupid?

With modern medecine, people with genetic diseases are capable of bypassing natural selection, and their genes can be passed down to the next generation. If this keeps happening, will we all be carriers of genetic diseases (at the very least) in the future, and if so, is there an ethical solution to this? This evidently seems far from realistic, but many countries are projected to have negative population growth in the future, making this a feasible possibility.

Hi I'm a first year genetics major and am looking for some degree advice. I am currently taking a stats paper that I do not enjoy but is needed for my degree. currently wondering as to what is the key type of modelling I need to do with program's like R and what type's of data analysis I need to learn from the course. Also I'm wondering as to which minor's pair best for getting specialised with Crispr cas. currently trying to consider between biochem, microbiology and not really for Crispr cas but because I like animals zoology.

I’m posting on a throwaway.

I recently got whole exome genetic testing done by a clinical geneticist. Found out I have a mutation on the CAV3 gene. It’s premature stop codon mutation.

There’s not much known about this mutation, and not much on the Internet… but my doctors are concerned mainly due to my symptoms and family history.

My doctors have been looking at my heart to make sure that I don’t have any defects (scheduled for a cardiac MRI soon) because my EKG was abnormal.

I also have been experiencing muscle weakness, muscle atrophy, and muscle pain after a very short periods of activity so many doctors are watching me to make sure I don’t have any sort of myopathy.

I’m curious if anyone here has information on CAV3 and it’s associated health issues/conditions? There isn’t much on the Internet.

I am doing research on how coat colors compare from species to species (ie. dog to cat to rabbit to guinea pig) as well as how they are different. This is just for fun, but at the same time, I want to read the most up to date information. The only book I can really find is Comparative Genetics of Coat Colour in Mammals By A. G. Searle, but it was published in 1968. I was just wondering if there was any newer information (on the internet, papers, or books) that anyone knew of that I could refer to? I'd especially appreciate if they included dog, rabbit, and/or guinea pigs, but any information would be great! Thanks!

I took the invitae 84 gene test to see if I inherited the brca2 mutation. My maternal grandmother was diagnosed with breast cancer at 42 and my maternal aunt got her breast cancer diagnosis in her 50s. My aunt took a genetic test at the time of her diagnosis and said she was tested for 16 cancer genes. She was positive for brca2 and nothing else according to her test.

I was surprised when my results came back as negative for brca but positive for chek2 c.444+1G>A and WRN c.654+4C>T. They said the chek2 mutation is pathogenic and the other is of uncertain significance. I guess I’m relieved that I don’t have the brca mutation but I’m confused as to where the other mutations came from.

My parents won’t get tested and I have large families on both sides. My mothers mother and sister so far are the only ones who’ve had cancer and my dads identical twin had a bout of colon cancer but he’s the only one out of 13 siblings and all of the nephews, nieces and cousins. Could my test results be wrong?

TLDR: I took the test to see if I inherited the brca2 mutation. That came back negative but apparently I’m positive for the chek2 mutation and no one else in my family who’s had genetic testing so far, has that. Could my results be wrong?

Hey everyone! I am a microbiologist who enjoys learning and researching genetics in their spare time. Recently I was going through my own genetic testing and found a variant for Brugada Syndrome that has a frequency of .02%. My most rate variant. It was classified as benign/likley benign on clinvar and I ran it through mutation taster and it came back as benign as well? Is this worth looking into further and does anyone have any other opinions for me? The SNP in question is rs375752426

I (29F) have been with my partner 2 years. He is from South Africa and I am British. I was brought up with severe abuse and I have worked to fix this and I have been able to fix things I was struggling with. My parter (28M) and I are different in some ways but we are very similar in a lot of ways I’ve noticed over time. I have changed my personality over time but my boyfriend as the male version of who I used to be. We have a wonderful relationship and we have never loved anyone as we love each other. However I am starting to get anxiety and panic over the fact that we are similar and that this could impact our children. I was reading go about “genetic variation” and the importance of it. Can anyone give me and insight/advice or maybe reassurance? I don’t want to end this relationship but I am stressing over this and I don’t know if I am overthinking

I’m interested in taking a health predisposition test for diseases / illnesses. I’ve heard of 23andme but anyone have thoughts on nebula, invitae, or others?

I’m really just trying to get a gauge of risks. I get the tests don’t guarantee an outcome but more looking for data points.

Hey, does knock out mean remove or remove and replace?

An answer wiling a source woul be awesome.

Hey there, I know this is a strange place to ask this but I want to take my chances. I'm an MD doing my 3rd year residency in medical genetics. I'm interested in neurogenetic and rare diseases, epigenetics and cancer genetics. I wonder if there is any lab/clinic director or head of department in here, I can send a CV to. Would be grateful for this opportunity.

Most of you guys have read my posts before about my fear that I had a CDKN2A genetic mutation and after my dad was diagnosed with melanoma a few weeks ago, I couldn’t stand the anxiety and intrusive thoughts about it anymore, so I decided to take action and find a way to get this testing done. I purchased the Invitae Cancer Screen test which analyzes 65 genes associated with different types of cancers. I got my results back this morning and it was negative. To say I’m relieved and overjoyed is an understatement, as this was something that hung over me like a dark cloud for the better half of two years.

I have one last question before I part from this group and Reddit app as a whole. Are these types of tests accurate and foolproof? I wasn’t thrilled with how the packaging came with my testing kit, as the box was only kept shut with a flimsy sticker. The point I’m getting at here is, if someone were to have breached my saliva sample before it got to Invitae and tampered with it (contaminated it with their own saliva and/or poured mine out, mixed something in it), would Invitae be able to detect this and reject the saliva sample? I know it sounds like I’m looking for a reason not to believe my test results, but that’s not the case here. I’m ecstatic right now! I’m truly curious if someone could pull something like this off and it go undetected. I look for r/shadowyams to holler back! Thanks again guys and wish you all the best!

I'm not looking for medical advice, I want to discuss the state of the art knowledge we have on this gene.

What does this mean:

unclear significance c.4007G>A, p.Arg1336His in the gene SMARCA4 (OMIM 603254, autosomal dominant Coffin-Siris syndrome 4 gene, OMIM #614609).

What would be the normal values for the average person? What is preventing us from understanding how significant a variable is?

Hello, I am trying to understand this - I think that network-rewiring has to do with changing the associations in expressions of genes during recombination, right? How is that different from the concept of coupling-uncoupling?

Sorry if this is a stupid question, I’m just a dummy undergrad :P

I'm at a personal crossroads at the moment and could use some external perspective. I've wanted to work in research since I was young, got excellent grades almost my entire life. Until the fourth year of my undergraduate where I crashed and burned. We're talking from a 4.0 to 2.7. Not my proudest moment. With a very poor final year, I immediately went into an MSc which I passed. However since I hadn't addressed the reasons why I was suddenly doing so badly*, I continued to get the same barely passing marks.

*anxiety, gifted child syndrome and family with terminal illness, mostly.

Since then I've been working in different labs and healthcare settings, improving myself, developing a work ethic that relies on discipline instead of enthusiasm and generally getting my life back on track. It came to a point where I was working in a small research & development company doing the same work the PhD's were doing. I asked around and my co-workers were supportive of me applying for a doctorate. If I applied myself to my work at a University the same as I was doing for their company, there was no reason I wouldn't be capable of completing a PhD.

The problem I'm now facing is that, when I apply for different programs, all people seem to see is my initial 2:2 degree. They see the person I was in 2014, not the person I've become since then. Getting funding and scholarships seems nearly impossible. I'm now considering if I would be accepted more readily if I self-fund the project instead. I have savings, it isn't impossible. But my concern then is whether I would be able to continue in academia/research afterwards. There seems to be a stigma against self-funded PhD's, particularly in the STEM fields. But Biology is often a world of it's own.

If anyone has any personal experience to share it would be greatly appreciated.

Hi,

I have lately been imbued into understanding how accurate can my genetic test educate me in terms of what I should eat. Is there anyone that has done this? What were the challenges? And what did you like about it?

Hi all,

Please forgive my question, but I want to be 100% sure before having children.

My sister in-law has Angelman Syndrome. Is this genetic at all, and do you recommend we consult with a geneticist before making the decision to have children?

What would go in between race and ethnicity?
ex:

Race (European/white)

??? (Germanic

Ethnicity (German)