Recent Customer Publications
Recently we announced that our customers named the Golden Helix software in 1,000 published articles! It was quite an honor for us and we are excited to start working toward 2,000. To start us off, here are a few of our recent customer publications.
- Fielding Hejtmancik and his colleagues at the NEI published, Polymorphism rs7278468 is associated with Age-related cataract through decreasing transcriptional activity of the CRYAA promoter in Scientific Reports which examined polymorphisms in the CRYAA promoter region for association with age-related cataracts.
- The Pitfalls of Companion Diagnostics: Evaluation of Discordant EGFR Mutation Results from a Clinical Laboratory and a Central Laboratory was published in The Journal of Molecular Diagnostics by Chris Amos and colleagues at Dartmouth University. The article takes a look at the limitations of FDA-approved assays and the necessity for a mechanism to re-evaluate discordant results of EGFR mutation status for clinical trial acceptance.
- Jeffrey Bishop and colleagues at the University of Minnesota published Antipsychotic pharmacogenomics in first episode psychosis: a role for glutamate genes in Translational Psychiatry which examined 86 patients who had minimal to no prior antipsychotic exposure in a 6-week pharmacogenomic study of antipsychotic treatment response.
- Sergey Kornilov of Yale University and colleagues published Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population in Scientific Reports. The paper investigates the genetic underpinnings of developmental language disorder using GWAS and whole exome sequencing in a geographically isolated population.
- A group of customers at the USAD, Lingyang Xu, El Hamidi abdel Hay, Curtis van Tassell and George Liu and colleagues published Population-genetic properties of differentiated copy number variations in cattle in Pediatrics which characterize CNV diversity among cattle populations and provide a list of lineage-differentiated CNV’s.
This is just a snippet of our recent publications in the last month, but you can find a full list here. If we missed your publication, please let us know so we can add it to the list!