Congratulations to Soroush Mahmoudianehkordi and Professor Mehdi Maadooliat for their publication of the GWID R package to conduct genome-wide analysis of identity-by-descent data. Article GitHub link to code and software information
Congratulations to Dr. Joni Sedillo for her article “Prevalence estimate of sphingosine phosphate lyase insufficiency syndrome in worldwide and select populations” Publication link
Welcome to Dr. Max Shpak, Research Specialist. Max is conducting computational research to better understand the genetic architecture of complex diseases.
Congratulations to Drs. Hao Liang and Joni Sedillo for their publication describing a database detailing new structural variants in high linkage disequilibrium with GWAS-significant SNPs.
Structural Variants in Linkage Disequilibrium with GWAS-Significant SNPs
This work will enable researchers with GWAS hits to determine if structural variants might be generating the disease association signals from their top SNPs. Here’s an example of the SV10995 insertion/deletion structural variant and highly correlated SNPs that have been found to be significantly associated with age-related macular degeneration, refraction error, cognitive function, and cataract:
Hao has created a GitHub page housing his database of SV-GWAS SNP pairs in high LD: SV_SNP
Congratulations to Joni Sedillo for her conference poster “Genome-wide scan for the discovery of impaired gene function in type 2 diabetes”, presented at the 2022 Computation and Informatics in Biology and Medicine Conference. She details genes harboring functional variants on both homologs which are associated with type 2 diabetes, revealing important genetics of metabolic dysfunction.
