r/genomics

Hi! My dad is 100% Ashkenazi Jewish (I’m 50%) and my mom has some autoimmune disorders. I purchased 23andme back in 2017 so I know I have some pretty rare and serious variants based off the limited raw data and reports 23andme can provide.

I’ve read through tons of negative reviews on direct to consumer WGS and I understand going to a specialist/doctor/etc is best to collect and interpret results and I will.

For now I’m looking for a direct to consumer whole genome sequencing recommendation. I do not need a company with great reports just one that provides the most accurate data that I can upload into different databases. I do not care about costs. I understand there could be mistakes and false negatives.

We have published a preprint titled “Evolutionary shifts in spike glycan-binding specificity suggest a possible association with host adaptation during SARS-CoV-2 Omicron evolution” .

I have a brother with ID which is of unknown origin. I recently bought a direct to customer with no use. No clinical geneticist in my country was trained to understand it. They suggested the USA. How does one go about getting their gene sequenced? Im a foreigner so if anyone has advice to that, it will be best.

Hey everyone! I recently built Crisprr, an AI platform that takes a gene sequence and generates optimized gRNAs, predicts guide performance, creates 3D structures, and exports experiment-ready results in seconds.

I'm looking for interesting sequences to test and improve the platform.

Drop a gene name or DNA sequence in the comments, and I'll run it through Crisprr and share the results here. I'd also love feedback on the outputs and what features would actually be useful in your research workflow.

I wonder if there are recommended tools in any language - R or python or others - which conveniently help visualise chronological expansion in hapologroup subclade branches maybe sourcing it from any of the online Y DNA databases?

I'm in the US and looking to get WGS that offers full data download. I know this question gets asked a lot, but the recent posts I found were for Europeans + commenters said the best option changes month-to-month.

I have heard bad things about every DNA sequencing option, so I'm torn haha. Please share your experiences + recommendations!

I'm in the SF area, so I'm also interested in volunteer options where you donate your data to science in exchange for sequencing. Seems like All of Us doesn't allow data download anymore though?

I'm 25 and thinking about leaving IT because I honestly hate it and don't see myself working in this field long-term.

I've always been fascinated by genetics and want to eventually work in gene editing/genetic engineering, especially involving animals and humans. I'm considering starting a bachelor's degree in Genomics, but I'm confused about the path afterward.

I can find jobs called "genetic engineer," yet I rarely see master's programs with that exact name. What do people usually study after a Genomics degree to enter this field? Biotechnology, molecular biology, something else?

Is changing careers at 25 for this goal worth it, or am I being unrealistic? I'd love to hear from people already working in genetics or biotech.

So I run a screen across 2800 nasdaq names, returns over a few horizons, distance from 52w highs, relative volume, dispersion, that kind of stuff. mostly to keep myself honest on the macro instead of trading off headlines. been doing it daily for a while now.

this week one thing stuck out and I've been chewing on it for a couple days so figured I'd just put it here and see if anyone's seeing the same thing or can tell me why I'm wrong.

there's a clump of genomics / DNA sequencing / diagnostics names that are all going to new highs at basically the same time. not one or two flyers, more like 20-25 of them. Twist (TWST) is up 100%+ over 3 months, Maravai 98%, NeoGenomics +77, Veracyte 79, then CareDx, Natera, Guardant, and even Illumina which has been dead money for literally years is up 40. the median name in that bucket is +33% over 3mo against roughly +4% for the whole nasdaq. so it's not just two rockets dragging the average up, the actual group is moving together.

why now, and this is just my read so push back: rates have been coming down and commodities are getting wrecked, gold/oil/silver all down double digits on the month. that's a disinflation tape. and the thing about most of these genomics companies is they make no money, the whole value is terminal-value way out in the future. so when the discount rate drops they're exactly the names that rip. long-duration equity basically. that part kind of makes sense to me.

here's what's actually bugging me though, and the real reason I'm posting. almost none of it has volume behind it. price is making new highs but relative volume is sitting around 1x, sometimes under. my screen literally tags most of them "needs volume." only a couple (Maravai, Natera) have real volume confirming the move. so I honestly can't tell if I'm early, in before the crowd, which is where you want to be, or if this is just a quiet drift higher that folds the second the tape turns.

I've got a small starter in TWST and I'm watching NEO, so that's my bias, take it for what it's worth.

couple things I'm genuinely trying to figure out:

does a breakout with no volume mean anything to you, or do you just wait for the volume even if it means giving up the first leg? I go back and forth on this constantly.

and if anyone actually follows this space, is there a fundamental catalyst here I'm missing (some approval cycle, funding thing, M&A chatter?) or is it really just the rate move pulling the whole group up at once?

not advice, I'm a macro guy poking at a sector I don't know that well, which is half the reason I'm asking.

Hi everyone,

I'm thinking about creating a public database that compiles published CRISPR-Cas9 experiments: target gene, cell type, editing method, key conclusions, and link to the source (PMID). The goal would be to have a single place to quickly find what's already been done, compare results across studies, and spot research gaps.

Simple question: would you actually use something like this?

If yes, what fields would be essential? If no, why not (no need, already exists, too hard to maintain, etc.)?

Thanks for your feedback!

I've been curating public datasets recently and kept running into the same issue: important metadata fields were missing from NCBI records (like Biosample, genbank, etc.), but the information often existed somewhere else like in the associated paper, supplementary tables, or methods sections.

After spending way too much time manually tracing accessions back to publications, I built a small tool called OpenBioData to automate some of the process.

The tool: https://app.openbiodata.it.com/

• Traces accessions back to source publications and supplementary materials
• Extracts metadata that may be missing from the record itself
• Provides a confidence score for extracted values
• Includes direct citations (PMID + table/section) so the source can be verified

I'm still actively improving it and would love feedback from others who work with public genomics datasets.

Has anyone else encountered this problem? If you have a few troublesome accessions, feel free to share them and I'll test them with the tool and post the results.

Curious to hear how others currently handle problem of NCBI metadata curation.