Human genome project, 1000 genome project and HapMap have ended.

What are ongoing genome projects (December 2024) that you know?

First things that comes to my mind are 100k Pathogen project, Neanderthal genome project and Human microbiome project.

Years ago I did the Ancestry.com genome test. I got the raw data processed by Promethease. From here: how I get it interpreted to me as a non-geneticist? Can I just take my raw data to a genetics counselor? How does one find one of those?

I've been curious about this for awhile and was hoping someone could shed some light on it. There are lots of methods for doing scRNA-seq and they typically involve dissociating the tissue to single cell suspension or some form of pre-processing. How do we know the cells don't totally change their expression profiles during the time they are being processed? How can we trust the genes we see being expressed are not just a response to all the new and foreign signals the cells are receiving during pre-processing? I work with human PBMCs which are usually frozen, washed several times, stained for cell sorting, etc. Doesn't that drastically change the transcriptional activity of the cells?

I'll start this by saying I have no genetic background. My ancestry DNA shows I have rsID397515515 at position 155208421 alleles 1 and 2 are both A. How does this translate to Gaucher's disease? Is this enough information to tell that I'm a carrier or have the disease? Looking into this for my son's sake.

Anyone know how to ID extra copies of a gene in Cravat? I assumed this is possible in sequence ontology (pseudogenes) but not certain. Looking for extra copies of TPSAB1 in a WGS VCF file.

Could polygenic gene therapy be invented?

I am trying to determine if multiple copies of TPSAB1 exist in a Nebula VCF file. Is there an easy tool for detecting?

Hi everyone! I am a bioinformatics minor and for my programming class final project, I’m thinking of making a program where I can enter a patient’s dna sequence and see if they are lactose intolerant or not. I am a beginner to using python. I’m also not sure where I can get the dna sequences. Please share any tips if possible. Thank you T-T

My first attempt with CRAVAT allowed me to sort (as with a spreadsheet) output (in the Variant tab) by clinical relevance. This option spontaneously disappeared and tryin got get it back. I cannot determine if this is module dependent or setting dependent. Any advice?

Can the human genome be altered?

can anybody explain DFNA80 GREB1L (p.Val1265Ala) mutation ? is there any research going on in this particular gene ? How it affects hearing loss

Is there a way to identify my original combine genotype from 23andMe raw data?

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Hi, I’m an undergrad student taking a Genomics class. We’re currently working on a GEP Wasp Gene Annotation project in my course and the gene I’ve been trying to annotate is puzzling me. I am by no means fluent in this category and I was wondering if anyone with experience with genome browser and annotating genes could help in anyway. I’ve been trying to determine the exact position of multiple CDSs and I’m just having a very hard time. It is a comparative genomics project if that provides more information. If anyone thinks they would be able to help I can provide more information. TIA!

Hello all, I have a problem that I am looking for a solution and am wondering if anyone has come across something like this.

I have bulk RNA seq data that is moderately deeply sequenced. I have aligned it to grch38 v112 introns and exons with transgenes cat to it as my genome has transgenes (used HISAT). I used featureCounts on the sorted aligned files to get count matrix (GTF file has transgenes cat to it too). I want to count based on transcript_id instead of Geneid as I am looking at some intergenic regions. However I am not getting any reads for any of the ENSTs for the a specific gene, though I can clearly see reads in those regions in IGV. I tried various combinations of input for different flags, but the only one that shows significant reads for that gene is -g "geneid" and -t "exon". This however defeats my purpose of looking for reads other than exonic regions. Can anyone guide me?

Hi everyone,

I am a current Biomedical Engineering student specializing in Health Sciences. I have some coding experience in MATLAB and Python. I have worked with toolboxes such as SimBiology and completed multiple projects in Python. I am by no means an advanced-level programmer, but as an example of my experience, I have created an AI tic-tac-toe program, worked on the code and hardware components for a device that detects seizures through muscle spasms, and used MATLAB's Signal Processing Toolbox to analyze EEG signals. I also have minimal lab experience, where I worked to create bacteria capable of detecting heavy metals. I’ve done several other smaller-scale projects, but there are too many to list here.

I am currently in my 4th year and want to start a beginner project in genomics or bioinformatics. My goal is to create something I can showcase to professors or employers to demonstrate my interest in the field and some basic knowledge. I am interesting in learning more about nural networks, but im not sure it that would be the best thing to do or if i will be biting off more than i can chew. Any advice would be greatly appreciated.

Hi.

I’ve been talking to my lab professor who did a masters degree I’m interested in that focuses on medical genetics and genomics.

The thing is, the course doesn’t teach you stuff like R or python but rather how to use bioinformatics tools to analyse genome function, mine data etc.

He claims that a lot of pharmaceutical companies have reached out to him and you can generally do a lot with the degree, but nearly every genomics or genetics job that I’ve checked out that isn’t just a genetics technologist I job, has proficiency in r and python as mandatory or expected.

Are there really such jobs where you’re expected to use tools rather than building them?

This is the masters program I’m talking about by the way

https://www.brookes.ac.uk/courses/postgraduate/medical-genetics-and-genomics

Hi! I am working on a market research project for Genomics Market in the Countries of Poland, Czech Republic, Greece, Hungary, Israel, Palestine, Slovakia, Slovenia, Bulgaria, Croatia, Cyprus, Malta, Albania, Bosnia & Herzegovina, Georgia, Kosovo, North Macedonia, Moldova, Montenegro, Romania, and Serbia.

If you're a genomics Professionals from these countries can you please provide some numbers related to genomics market? If someone can just point out some genomics companies operating out of these regions then it would be helpful too!

Option A) Lenovo thinkpad X1 Carbon Gen 12 , 32GB RAM, i7 ultra 155U, 1TB SSD, $1435: https://www.amazon.com/gp/aw/d/B0DBYLG4LZ?psc=1&ref=ppx_pop_mob_b_asin_title&th=1

Option B) MacBook Air 2024 - 24GB RAM, M3 chip, 512GB SSD, $1299: https://www.amazon.com/Apple-2024-MacBook-13-inch-Laptop/dp/B0CX24BNQC/ref=mp_s_a_1_1_sspa?crid=NTQU86SHTBC2&dib=eyJ2IjoiMSJ9.j6MBDu3qrLO-n86Vh7R2XGknzJAzqWOwgMG6AiI2o5EsrsjzXT_fc3U8YyVPVZs_-P34qJpOKw1D6X3dZz6VV39D2wxJMBNQDXCQMKDCOaKSzacox6e7Q_luZUlbC735hOX-9NJwtrQac-Bcbu6VEbMIpTB6elila0yFQUH7YlFt9jelJoyaT6usViERpLd5pCdW2J4PBQUygBfYtU0c0A.x5aBlciYXH2g2irGMb8H9cSSOgBsED4xZTJoyw2Pmdo&dib_tag=se&keywords=laptop+macbook+air&qid=1731616494&sprefix=laptop+mac%2Caps%2C130&sr=8-1-spons&sp_csd=d2lkZ2V0TmFtZT1zcF9waG9uZV9zZWFyY2hfYXRm&psc=1

Hi,

Does anyone have experience with automation in genetics such as validating a Hamilton for use? Would be great if someone could DM me a validation plan :)

Thanks

Hello:
Does anyone know of a company that offers completely anonymous whole genome sequencing?

Nebula Genomics USED to offer it, I think, but now they appear to have become "DNAComplete.com"--- and they don't appear to offer it anymore.

Any help would be appreciated. Thanks!

Hi everyone! I’m new to genomics and working on a project where I want to compare whole-genome sequencing (WGS) data from the SRA database. I’ve found 11 relevant BioProjects, each with between 90 and 1,000 individual SRA runs. My goal is to treat each SRA run as a single data point in my analysis.

Does this approach make sense for a genomics project, or am I overlooking some challenges with using this much data? Is it feasible to manage that many runs, and are there practical strategies for working with such large datasets? Thanks in advance for any advice!

32 Female. Adhd/anxiety . Im awaiting call back from doctor but im wondering with these results can i even bother with an SNRI?

Ive had terrible experiences with SSRI itself