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/r/genomics

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5

Where Your Ancestors Lived—More Than Your Race—May Explain Key Health Disparities

A new book by a UNT historian argues that American medicine overlooks how the ailments of many Black Americans are influenced by the diets of their African forebears.

https://www.texasmonthly.com/news-politics/ancestral-genomics-geography-black-health-disparities/

0 Comments
2024/04/22
15:40 UTC

1

Personalised Medicine Through Genomics

I stumbled upon this captivating article exploring the revolutionary effects of genomics on personalised medicine. It thoroughly examines how our genetic information can be employed to customise medical therapies specifically tailored to individual genetic makeups, thus transforming healthcare. The article explores a wide range of topics, from the technological aspects of genomics to its practical implementations and potential future developments. I thought it could initiate some intriguing conversations here! You can find the full article here: Full Article

0 Comments
2024/04/22
09:58 UTC

2

Genetic variant

Hello everyone, I have a question: how can I distinguish or determine whether a genetic variant (f.e. WES) seen on IGV is heterozygous, mosaic, or a PCR duplicate?

1 Comment
2024/04/18
18:40 UTC

2

Help with gwas

Hi all, I am working on a gwas and I need some advice on early data qc and processing. I’m reading a lot but there is still some “experience gap in knowledge” - [advisors are not knowledgeable or helpful]

The data from illumina is made up of 3 batches (there are some batch control duplicates included in 2 and 3).

Each batch has multiple illumina reports GSGT files (as *.cvs.gz).

  1. my plan is to convert the reports to a plink supported format, then merge them into 1 file for the batch. Is that the right approach?

  2. next, I planned to do the QC on each batch, and impute each batch separately?

3)how best to approach batch control and combining the 3 batches? - truong et al, 2022 suggest comparing the avg maf and genotyping call rate across the batches . . .

  1. do I need to run QC again after combined the 3 batches into 1?

Please help, any insight is greatly appreciated!

0 Comments
2024/04/17
20:47 UTC

2

How to view g.vcf.gz.tbi files

Hello! This is (hopefully) a quick question, but as a non-bioinformatics person who just received g.vcf.gz.tbi files, how do you open them? I have no idea which program to use. Thanks!

2 Comments
2024/04/17
18:50 UTC

1

Microbiology or molecular genetics/genomics?

Hi! I'm a sophomore majoring in Microbiology at the moment. I'm enjoying it, but I've been thinking of a major at my school called Genomics and Molecular Genetics at my school. The reason I want to switch is because I recently picked up a minor in anthropology, which is a major interest of mine, and my dream is to work biological anthropology research, broadly. I'm going with the flow... currently I'm working in a mosquito research lab until I find a lab where I can shadow in biological anthropology.

I do not wish to work in anything medical, and it seems like thats my only option if I stay in micro. I would also prefer to focus on eukaryotic cells.

One more thing- all my current credits would transfer if I switched.

Any advice? Feel free to ask questions, I know I left a lot of information out.

1 Comment
2024/04/16
22:22 UTC

2

Changes to SERT gene SLC6a4.

I am wondering how a methyl group could be added and what it could do. I don't have background in science. Thanks

0 Comments
2024/04/14
23:45 UTC

2

Need help with blastn

I was tryna blast TERC gene in humans and zebrafish - unable to get any results on blastn while clustal omega gives an output for the alignment. I could get results with TERT gene - did I download the wrong sequence files or what am I doing wrong?

Ensembl didn't have TERC for Zf and i downloaded from NCBI -

Danio rerio non-coding telomerase RNA gene, complete sequence

Sequence ID: EF569636.1 Length: 317 Number of Matches: 1

and

Homo sapiens telomerase RNA component (TERC), telomerase RNA

Sequence ID: NR_001566.1 Length: 451 Number of Matches: 1

3 Comments
2024/04/14
07:35 UTC

1

What are some of the biggest unsolved problems in genomics?

Are there any NP-complete and NP-Hard ones?

2 Comments
2024/04/12
07:59 UTC

3

Question regarding DNA Sequence

I'm working with dna sequences, classifying them into species using Deep Learning Methods, I don't have any background in biology or any knowledge for genomics.

I had a one question, currently I have a dataset that has 70,000 sequences each of 1000 nucleotides length. These are for 9 different covid variants and my task is to classify them accordingly, if for example I take a sample sequence of 1000 nucleotide length that belongs to species 1 and chop it into 10 sequences of 100 length each, could I say that this fragment would also belong to species class 1? does that work? or there needs to be a deeper processing of these sequences , so that I can assign this to a class?

11 Comments
2024/04/12
06:26 UTC

9

Is there consumer interest in obtaining your whole genome sequencing raw data?

I’ve been doing whole genome sequencing for over 10 years now, and it is getting to the point where it should be affordable and quick to do for consumers with an Illumina Novaseq X plus.

The catch is, in order for this to be cost effective you need to run ~128 samples for 30x coverage because the consumables for flow cells are very expensive. Takes about 48 hours and an extra week to go from raw sequences (fastq) to an interpretable format (VCF).

The current products companies are offering seem awful with weird subscription models, and 4 month turn around times.

For a full run it should cost about $800/sample with results returned in a couple of weeks. Is this a product people are interested in?

12 Comments
2024/04/11
18:02 UTC

3

AMA with a Genomics CEO: Insights how we are improving children’s health and bringing a regulated technology to market

2 Comments
2024/04/10
16:13 UTC

2

Number of mitochondria in cancer cells

Hi everyone!

I am working on mitochondrial DNA in cancer, but I cannot find a satisfying answer to a pretty simple question. How many mitochondria are there in a human cancer cell? Has anyone found an effective way to count them?

I am struggling with scientific literature but I always find the same sentence "from tens to thousands..." with no real counting method.

Am I missing something? 🤔

5 Comments
2024/04/10
08:04 UTC

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