The question itself may sound dumb however I'm a medical student with limited knowledge on genetic nomenclature so I've encountered this while preparing a case report. I'd be more than glad if you can help me understand it. Thanks

What is the significance when a VUS has an amino acid swap?

What is the significance of the amino acid’s properties of acidic vs basic or polar vs non-polar?

I'm a prof and am teaching genetics. Read some of Eighth Day of Creation in class and learned about Alice Audureau, who taught nobel prize winner Jacques Monod how to do some basic bacteria genetics and worked with him on some stuff that led to his nobel work on gene regulation and the lac operon. She seems dope! We want to learn more about her but can't anything beyond the fact that she was a graduate student in France in the mid 20th century. Any nerds here know where we can find more?

At least from what I've noticed, many Italians, greeks and jews have very similar features. Does anyone have any idea why that is? (If it even IS in the first place)

Hi all,

I am an undergrad student trying to plan classes for next semester and coming up on time to start making some decisions/plans for the future (med school, PhD program, etc). There may be existing posts that cover this, but I am new to Reddit so feel free to point me in the right direction if so.

I'll provide a summary at the end to recap my specific questions, but here is some context and some thoughts I'm having.

I have always wanted to go to medical school but wasn't really sure what area of medicine I was interested in. I've done some shadowing in several areas and have been exploring my options to decide if this is what I want to do with the rest of my life. Cardiology was cool, but I would be bored. ER was super cool and fun to shadow, but it's not my top choice. I come back to genetics again and again because I find it exciting and fascinating, more so than anything else, and I am trying to find a genetics clinic that will allow me to shadow to see what the career is actually like because I know the idea is different than the practice. I've reached out to the local clinic but they have not yet gotten back to me, so I'm waiting that out.

One thing that I know I want is patient interaction. I have been pretty set on MD route for this reason, and additionally, because I am under the impression that PhD tends to cater toward labs and research which are not my favorite. To be clear, my lab experience is pretty limited to chem labs, but the few biology labs I have taken have been more interesting and fun to me (general bio, microbiology, zoology, physiology). I am taking genetics lab at my university next semester and I am hoping that will be enjoyable (or if it's not, maybe another nudge to reassess?).

Organic chemistry has been making my life pretty miserable lately (professor issue, her exams are designed to fail, I'm just trying to survive and get past it), so I'm feeling a bit discouraged. But I am also realizing that school is not my life. It is important to me obviously because of my goals, but I want more out of life. I want to have time to see my family, have a family of my own one day, be present, plant a garden. I want the little things, the small joys. And I am afraid that that life is impossible for a doctor.

I watch other medical professionals in my life being constantly busy. And I've been busy all my life (I am a collegiate student-athlete with multiple obligations and extracurriculars outside of pre-med coursework). In short, I'm tired. And I don't want to spend my life rushing and surviving and being tired. I know that when I graduate and no longer have athletics on my plate this will alleviate a lot of stress. I can handle a lot, and I know that pursuing a career in medicine this will be part of it, but I also just need to know if it gets better? I feel like a genetics specialty could have good options for me, but again, I haven't been able to shadow any genetics careers yet so I wouldn't know if this is a bad idea (those with experience please be honest but realistic with me).

​

In summary, I'm pretty sure that I want to do something with genetics. This is a topic I like to read about in my (extremely limited) free time and I can get lost in it. It's fascinating. I have read some on what medical genetics entails and interest-wise, it sounds perfect for me. (https://www.ama-assn.org/medical-students/specialty-profiles/what-it-s-specialize-medical-genetics-shadowing-dr-abbott this is a great summary of what I am interested in.)

BUT I am most concerned with lifestyle compatibility. I want to enjoy my life and have time for a family and hobbies (gardening, running, cooking type hobbies. Nothing TOO time-consuming but I need time for relaxing. I don't want work to BE my life.)

• What career options do I have in genetics? Counseling vs Research vs.....others?
• MD vs PhD for said options? ^
• Will I have a life outside of work? I want to enjoy my life. I want a family. Can I do this and still have a career in genetics?

Thanks in advance, any advice and personal experience would be very helpful.

Hey everyone! Quick question: as a graduate student in Genetics, what would I be qualified to apply for in terms of doctoral studies. Are the skills and expertise acquired applicable and interesting enough for PIs in topics such as molecular biology, biotechnology, bioinformatics, etc. or will I be needing a degree in those to be even considered.

PS: i am looking for programs/offers in Europe

If you're born with a mutation that causes a disease, why it shows symptoms later not at birth?

Dear friends, what genetic tools you know, that are freely available to use (with web interface) ? Main interest is using vcf file of exome or genome sequencing for prediction scores, risk variants and so on. Intended use is for fun, not for clinical questions. Genetic data leakage is acceptable risk

Or does it work like that? Basically how far do you have to go to where any random modern stranger is roughly the same % related

Hey! I am just beginning my interests in genetics and was wondering if any one could answer questions surrounding genetics and potential of it being into a career. Im about to be in my final year of school and realized my calling for genetics, but sadly, I have no idea what to do. I feel lost atp but I'm motivated to learn. A few people have asked me what I want to get into IN genetics but I really have no idea. If it helps I enjoy math (I don't enjoy cs) and prefer the more human, heredity topic of genetics more.

If there is anyone willing to pass down their knowledge around the field of genetics (such as books to read, podcasts to listen to, or just general information) pls let me know! Just some advice should suffice! Thank u!

Hello. I'm thinking of pursuing a career in genetics and genomic. Was just wondering if this is a viable industry to enter. Its something that really interests me but I won't do it if I'm struggling to get a job after I graduate. What kind of jobs await me? Any input from someone already in this field is greatly appreciated

I am currently taking a genetics class which is finally covering mutations. Does anyone have a good analogy to help me comprehend replica plating? I found a video on YouTube that helped, but I still struggle to understand the big picture. Any help?

So why can’t genetic information just be used to healthcare development and nothing else? why do governments and lawmakers need to take into account commercial interests when those are just raising multiple societal scenarios that nobody knows what to do with or regulate? why cant access be strictly controlled?

as of now i dont know of any companies who do but im writing an essay on DNA data and privacy and some of the main concerns are from people who dont want insurance companies or future employers to get access to their genome information so that they are not at a disadvantage and the issue of 'privacy' keeps coming up which im also finding hard to quanity

Where and how do we access the database of wild animal genome information and comparison like this? I really want to do genetic comparison between two different but closely related species or even between individuals within the same species to understand the genetic influence of their different behaviors.

All requests for help with exam study and homework questions must be posted here. Posts made outside this thread will generally be removed.

Are you a student in need of some help with your genetics homework? Do you need clarification on basic genetics concepts before an exam? Please ask your questions here.

Please follow the following basic guidelines when asking for help:

• We won't do your homework for you.
• Be reasonable with the amount of questions that you ask (people are busy, and won't want to walk you through an entire problem set).
• Provide an adequate description of the problem or concept that you're struggling with. Blurry, zoomed-in shots of a Punnett square are not enough.
• Respond to requests for clarification.
• Ask your instructor or TA for help. Go to office hours, and participate in class.
• Follow the template below.

​

Please use the following template when asking questions:

Question template

Type:

Level:

System:

Topic:

Question:

Answer:

What I know:

What I don’t know:

What I tried:

Other:

End template

​

Example

Type: Homework

Level: High school

System: Cats

Topic: Dihybrid cross

Question: “The genetic principles that Mendel uncovered apply to animals as well as plants. In cats, for instance, Black (B) is dominant over brown (b) fur color and Short (S) fur is dominant over long (s) fur. Suppose a family has a black, short-furred male, heterozygous for both of these traits that they mate with a heterozygous black, long-furred female. Determine and present the genotypes of the two parent animals, the likely gametes they could produce and assuming they have multiple, large liters what is the proportion of kittens of each possible phenotype (color and length) that the family might expect.”

Answer: N/A

What I know: I understand how to do a Punnett square with one allele. For example, Bb x Bb.

What I don’t know: I don’t know how to properly set up the Punnett square to incorporate the additional S (fur length) allele in the gamete.

What I tried: I tried Googling “cat fur genetics” and didn’t find any useful examples.

Other: What happens if there is another allele added to these?

End of Example

​

This format causes me abject pain, why do I have to fill out the template?

1. We want folks to learn and understand. Requiring the user to put in effort helps curb the number of “drive-by problem sets” being dumped onto the sub from users expecting the internet to complete their assignments.
2. Posters often do not include enough information to adequately help answer the question. This format eliminates much of the guesswork for respondents and it allows responders quickly assess the level of knowledge and time needed to answer the question.
3. This format allows the posts to be programmatically archived, tagged, and referenced at later times for other students.

Type: Where did the question come from? Knowing the origin of the question can help us formulate the best available answer. For example, the question might come from homework, an exam, a course, a paper, an article, or just a thought you had.

Level: What is the expected audience education level of the question and answer? This helps us determine if the question should be answered in the manner of, “Explain like I’m 5” or “I’m the PI of a mega lab, show me the dissertation” E.g.--elementary school, high school, undergraduate, research, nonacademic, curiosity, graduate, layperson

System: Which species, system, or field does the question pertain? E.g.—human, plant, in silico, cancer, health, astrobiology, fictional world, microbiology

Topic: What topic is being covered by the question? Some examples might include Mendelian genetics, mitosis, codon bias, CRISPR, or HWE.

Question: This is where you should type out the question verbatim from the source.

Answer: If you’ve been provided an answer already, put it here. If you don’t have the answer, leave this blank or fill in N/A.

What I know: Tell us what you understand about the problem already. We need to get a sense of your current domain knowledge before answering. This also forces you to engage with the problem.

What I don’t know: Tell us where you’re getting stuck or what does not make sense.

What I tried: Tell us how you’ve approached the problem already. What worked? What did not work?

Other: You can put whatever you want here or leave it blank. This is a good place to ask follow-up questions and post links.

How can you identify if a genetic mutation is germline? Does germline just mean it was passed from parent to child?

https://www.newscientist.com/article/mg12717262-400-science-the-gene-that-makes-a-man-of-you/

So I know there’s LOF mutations in genes like TP53, BRCA1/2 that can massively increase cancer risk. There’s also SNPs from various genes in GWAS studies associated with decreased risks of certain cancers, but these appear to be small decreases generally. So I’m just wondering if there’s any known mutations detected in any human that massively decrease cancer risk to the point where it would make it extremely unlikely for someone to ever get cancer. Is this theoretically possible? If not, what about something like having extra copies of tumor suppressor genes, would this decrease cancer dramatically?

If we have such a high percentage compared to bananas, the common ancestor between us already had much of what would make us human, even before the dinosaurs, in other words, it took less time for us to differentiate 50% in recent years than billions of years to reach the 50%, right?

I recently had a genetic test done to determine whether I have a predisposition for Macular Degeneration (I had the test because my father had MD).

For example, on a particular gene (CFH) the report lists 2 SNPs (rs3766405 and rs412852) and the findings for these are "CT" and "TT" respectively.

I'm just asking about the meaning (not the significance) of the CT and TT results.

For instance, does "CT" for the first SNP mean I have a C in that location on one chromosome and a T in that location on the other chromosome - or does it mean that people typically have a C in that location and I have a T in that location?

Similarly, does "TT" for the second SNP mean I have a T in that location on both my chromosomes - or does it mean that people typically have a T in that location and I also have a T in that location?

Thanks

I'm an undergrad prepping my next semester schedule. My options are applied physics or physics without calculus. Does it matter which I take? I want to pursue a grad degree in genetics or computational bio

Howdy!
I am interested in getting a WGS ran. Most of the information I have found stems from a couple years ago. I was wondering if y'all had any recommendations of where I should get this done/things to look for in a provider in terms of getting the best product possible.

I initally ordered from Dante Labs, but they have not even received my sample yet and are about to get a nice legal complaint so they are out.

TLDR: Looking for more information on Aymé-Gripp syndrome. My little sister was diagnosed with Aymé-Gripp syndrome (also know as Fine-Lubinsky syndrome), but the visit that is supposed to give us detailed explanation and information is scheduled for next year. It's a genetic disease diagnosed for the first time in 1996, so it's still quite new. Diagnosis itself is based mainly on literature and there isn't much of that ethier. Apparently there is about 30 people in the world who got diagnosed with Aymé-Gripp, wich makes it hard to learn about it. Is there anyone here who is familiar with rare genetic disorders or just can guide us where to look for more information on this? My mom doesn't speak English, but she wants to know as much as possible about this disease. I tried to translate some articles to her, but they are either copying eachother word for word or they focus on the professional medical description of what is going on with the chromosomes, not how it actually works in real life.

So I have just graduated high school and genetics has been an interest of mine for a while now, and over the years I’ve reduced my options to molecular genetics and forensics. I’ve obviously researched what they do and their work hrs etc but I would really appreciate it if someone would give me both pros and cons of working in forensics and the same for molecular genetics