Genetic Genie

Bioinformatics and genome analysis tools for use with consumer genomics and Whole Genome Sequencing (WGS/WES) data.

[Genetic Genie @GeneticGenie]

Researchers found that less than 5% of youth in the study who tested positive for ME/CFS had been previously diagnosed with the illness.

https://t.co/AthNS3mQAL

[Genetic Genie @GeneticGenie]

"With high sensitivity, there are at least three separate sets of genes that may play a role — and different highly sensitive people may have some or all of them. Interestingly, every single one of these genes affects your brain or nervous system."

https://t.co/EI6tfMSkA0

[Genetic Genie @GeneticGenie]

@xcode_ls Check out our new service that can narrrow down carrier status or disease in the entire genome (23andMe, Ancesrty, WGS/WES).

https://t.co/SKzMFKOiHW

[Genetic Genie @GeneticGenie]

@s_aleem Check out our new service that can narrrow down carrier status or disease in the entire genome (23andMe, Ancesrty, WGS/WES).

https://t.co/SKzMFKOiHW

[Genetic Genie @GeneticGenie]

@Be_Kinderr @AshHultman @nerdymedzebra ME/CFS has enough research to prove its existence. And if one think it's not real, they are now in disagreement with some of the most brilliant minds in the history of medical science. And with a 40% comorbidity, it should be obvious to everyone that MCS/IEI is real.

[Genetic Genie @GeneticGenie]

@Be_Kinderr @AshHultman @nerdymedzebra I don't use the term MCS anymore. I use Idiopathic Environmental Intolerance. That may still confuse them, but when they look it up they'll see authoratative sources.

This article mentions that 40% (!) of people with Chronic Fatigue Syndrome have IEI.

https://t.co/tIKODGR3QZ

[Genetic Genie @GeneticGenie]

@Be_Kinderr @AshHultman @nerdymedzebra Most haven't read the history, unfortunately.

[Genetic Genie @GeneticGenie]

@Be_Kinderr @AshHultman @nerdymedzebra Yeah, I can't handle new buildings or some old, dusty/moldy buildings. I feel best living in buildings that are 4 or 5 years old. But new commercial retail and restaurant buildings don't usually bother me unless they use a bad cleaner.

[Genetic Genie @GeneticGenie]

@Be_Kinderr @AshHultman @nerdymedzebra The idea of using mestinon for a syndrome that it may have been involved in creating scares me. So no, I won't be touching that. I think it's been suggested by a doctor before though.

[Genetic Genie @GeneticGenie]

@Be_Kinderr @AshHultman @nerdymedzebra It's a good and complex question. Not everyone with MCS/IEI has BCHE mutations. Statistically, I don't think it's very significant (surprisingly). The exact genes/mechanisms that cause this syndrome are still unclear.

[Genetic Genie @GeneticGenie]

@Be_Kinderr @AshHultman @nerdymedzebra If I could do it over again, I certainly would avoid using terminology such as "toxic" or "poisoned" in front of medical professionals. It really impeded my care. But I was young and naive and didn't know there was dogma.

[Genetic Genie @GeneticGenie]

@Be_Kinderr @AshHultman @nerdymedzebra I wasn't aware of a specific exposure before illness, but the best way I could describe things after I got sick is that I felt "poisoned." I knew nothing about medical culture then and didn't read anything online about health so I had no clue why this was received so poorly.

[Genetic Genie @GeneticGenie]

@Be_Kinderr @AshHultman @nerdymedzebra 23andMe has my specific Pseudocholinesterase deficiency mutation. Confirmed by sequencing. But 23andMe it's only about 0.02% of your DNA, so it may or may not have others.

[Genetic Genie @GeneticGenie]

@Be_Kinderr @AshHultman @nerdymedzebra I have ME/CFS with Pseudocholinesterase (BCHE) deficiency. I believe Promethease reports it. But if not, our service, GenVue Discovery can find any pathogenic BCHE variants in 23andMe, AncestryDNA or Whole Genome Sequencing if it exists.

https://t.co/SKzMFKOiHW

[Professor Tim Sandle @timsandle]

Complete human genome extracted from 6,000 year-old gum

Read more: https://t.co/haH8DzwhI1 #genomics #Science #biology #historical

[Genetic Genie @GeneticGenie]

@writingjax https://t.co/ca4ccIdOY9

Some privacy-releated things are re-iterated in the terms and conditions as well.

https://t.co/P0KdpskGVp

[Genetic Genie @GeneticGenie]

Did you know? If you are in the US and uploaded data to Promethease, MyHeritage is now using your data on their platform and creating user accounts for people in the US.

[Genetic Genie @GeneticGenie]

@not_a_reptiloid @meleshko_da @assaron https://t.co/nYRozJPecd is a really good way to get instant stats about a BAM if you didn't already know.

[Genetic Genie @GeneticGenie]

@not_a_reptiloid @meleshko_da @assaron If you know regions of interest, 40 GB BAM is no problem on Laptop with IGV Viewer. You can also analyze genes in the BAM or VCF directly at https://t.co/QXahgwD455 . It uses JavaScript versions of samtools/bcftools, so no upload needed.

[Genetic Genie @GeneticGenie]

@strnr @mahmoudkoko @GenomeInABottle Can't always assume missing Genotypes will match reference no matter the depth. So many reasons why.

Best to create a gVCF with GATK and use GenotypeGVCFs with emit all sites. VCF should weigh around 15-20 GB.