- by /u/gwernsubmitted by /u/gwern [link] [comments]
- by /u/goTU123I did a whole genome sequencing and I am confused on one of the drd4 mutations that I have and that I passed on to my kids. I assume it is a mutation at least since I can't find any info on it or even the frequency of it in the population. I am heterozygous for it. The data says it is a deletion on chr 11 from position 634826-636065 and it says I have a deletion. The only variant id it gives me is RCV000018256 which says it is an insertion. Do I have an insertion or a deletion? […]
- by /u/Fair-Rain3366I wrote this breakdown of a recent Nature paper on systematic biases in GWAS. Key findings: • GWAS and burden tests analyzing 209 traits found different "top genes" • Gene length creates a lottery ticket effect (more variants = more chances) • Drugs targeting GWAS genes: 50-55% approval vs 60-70% for Mendelian targets • Rank aggregation can rescue important short genes buried in rankings The Python code shows how to combine methods to correct for these biases. Happy to discuss the methodology or implications! submitted by /u/Fair-Rain3366 [link] [comments]
- by /u/lupapupa213submitted by /u/lupapupa213 [link] [comments]
- by /u/cyeah88Anyone knows the storage capacity of the instrument's onboard storage? I know the user guide mentioned it can store two runs and start two runs (not sure what is meant by this). However, knowing how many GB can be stored onboard can be helpful with planning small output runs. submitted by /u/cyeah88 [link] [comments]
- by /u/Genome_BCJoin us for a Reddit AMA with: 🔹 Dr. Pooja Swali, PhD – Ancient pathogens & metagenomics researcher u/PoojaS_1993 🔹 Dr. Kaylee Byers, PhD – Host of Nice Genes! podcast u/TheRatDetective 📅 November 5 ⏰ 8:30–10:00 AM PST / 11:30–1:00 PM ET We’ll be chatting about: 🧫 Pathogen evolution 🧬 Ancient DNA 🌍 Climate change & disease spread ❤️ Why humans make such great hosts https://preview.redd.it/v3lvi995i4zf1.jpg?width=800&format=pjpg&auto=webp&s=e95da3406b9461b51a0bc89a892afffda8f18258 https://preview.redd.it/9jdgfot9i4zf1.jpg?width=1437&format=pjpg&auto=webp&s=4fe5eed788b23b6247ee2bfe7d8888a8e747b269 submitted by /u/Genome_BC [link] [comments]
- by /u/nerdywatercoloraceHello! I’m Omkar, 28, with a Master’s degree in Biotechnology (CGPA: 8.2). I’ve previously worked in research-related roles but took a career break for a little over two years. Now, I’m looking to re-enter the biotechnology field and explore opportunities that can help me transition back into the industry. I have a strong interest in genomics and bioinformatics, both of which I studied during my master’s program. Would pursuing online courses in these areas—such as those offered on Coursera—and gaining hands-on experience with genomic datasets help me secure a job in these fields? Any advice on this subject would be […]
- by /u/Holodoxasubmitted by /u/Holodoxa [link] [comments]
- by /u/Top_Pomelo7996Curious question for the single-cell crowd here — if you could snap your fingers and instantly have one brand-new R or Python package for scRNA-seq analysis, what would it do? There are already so many great tools — Scanpy, Seurat, scVI, CellRank, scvelo, monocle3, inferCNV, etc. — but it feels like there are still gaps no one’s filled cleanly yet. submitted by /u/Top_Pomelo7996 [link] [comments]
- by /u/ChallengeHuge4686Hope you don't mind me dropping a question on here but reddit has been helpful more than once and I could definitelyuse a couple pointers on how to navigate the consumer facing WGS world. For context, I'm looking to get my dna sequenced for the purpose of mapping out potential health related issues that seem to be a kind of recurring theme in my family. Looking for the most comprehensive option and so far leaning toward Nucleus Genomics based on price/report coverage. Has anyone on here gone through WGS testing – if so how good was the data? Ty! submitted […]
- by /u/Much-Resolution4744submitted by /u/Much-Resolution4744 [link] [comments]
- by /u/chowd92Hi all, I’d really appreciate some advice from people working in genomics or adjacent area in industry. I have a BSc in Biomedical Science, and I’m currently doing a PhD in Clinical Psychology research that’s strongyl grounded in genomics/statistics Examples of methods involved (all using large-scale cohort/biobank datasets): Using mendelian randomisation to study causal effects of biomarkers (e.g. hormones, anthropometric traits) on mental health outcomes Examing association of QTLs with brain connectivity measures Examining proteomic and methylomic markers and whether associated with disease risk The above has been supportd by university and workshop training in quantitavive/population/statistical genetics Through this work, […]
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