genetic polymorphisms

Many disease-associated variants are thought to be regulatory but are not present in existing catalogues of expression quantitative trait loci (eQTL). We hypothesise that these variants may regulate expression in specific biological contexts, such as stimulated immune cells. Here, we used human...

Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children MIS-C Bellos, Evangelos and 97 others Multisystem inflammatory syndrome in children (MIS-C) is a rare condition following SARS-CoV-2 infection associated with intestinal manifestations. Genetic...

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3442958/

I have access to my own raw data and am looking through it slowly. One of the interesting findings so far is a series of mutations in the HLA-DQB1 gene, and one in the HLA-DRB1 gene which are all associated with increased risk for multiple sclerosis. PS: also many variants in HLA-DQA1. I also...

I have a 23 and Me kit in my room for years. Hesitant to use it cause of privacy issues. Was wondering are there tests that a doctor's office can run that would be similar to 23 and Me? Then I wouldn't have to be concerned about my results, how they are going to use it now or in the future...

I thought this was an interesting and hopeful article about the genetic basis for a well-known neurological disease and competing scientists actually working together...

Paywalled at http://journals.sagepub.com/doi/abs/10.1177/1099800418806055?journalCode=brna