Some of our customers have recently published using our SVS and VarSeq software in their studies. We wanted to share their work and congratulate everyone on their success!

• Maria Skerenova at the Institute of Clinical Biochemistry and her colleagues published Genetic variants in interleukin 7 receptor α chain (IL-7Ra) are associated with multiple sclerosis risk and disability progression in Central European Slovak population in the Journal of Neuroimmunology which determined that IL7Ra gene is associated with the progression of MS, while genotype TT and minor allele T are protective against the progression.  
• Howard Saal, Rolf Stottmann, Ching-Fang Chang, and Kristen Sund at the Cincinnati Children’s Hospital Medical Center along with other colleagues published A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia in the Oxford Journals which used next-generation exome sequencing and comparative analysis to conclude the FRIZZLED2 Mutation is a novel cause for autosomal dominant omodysplasia.
• Robert Hopkin and Robert Hufanagel at the Cincinnati Children’s Hospital  Medical Center, as well as several other colleagues, published Mutations in the Edothelin Receptor Type A Cause Mandibulofacial Dysotois with Alopecia in the American Journal of Human Genetics. Their work highlighted the importance of regulating EDNRA signaling during human craniofacial development.
• Brian Ference and Robert Flack of Wayne State University and their colleagues published the Effect of Naturally Random Allocation to Lower Low-Density Lipoprotein Cholesterol on Risk of Coronary Heart disease Mediated by Polymorphisms in NPC1L1, HMGCR, or Both in the Journal of the American College of Cardiology which evaluated the effect of lower LDL-C on the risk of CHD mediated in specific polymorphisms.

If you have published recently and we happened to miss your publication, please let us know at info@goldenhelix.com.