We hope our Golden Helix community had a delicious Thanksgiving, and several of our customers had an additional reason to celebrate because they published this month, including one book publication! The success is overwhelming and we are happy to share it with you each month:
- Randovan Kasarda of the Slovak University of Agriculture and colleagues published Genetic Divergence of Cattle Populations Based on Genomic Information in Animal Sciences which conducted GWAS studies to identify genomic regions that affect the variation of phenotypic traits in cattle. The main goal was to detect causal mutations.
- Elucidation of MRAS-Mediated Noonan Syndrome With Cardiac Hypertrophy was published in Circulation by Katia Sol-Church of Nemours Children’s Clinic, along with colleagues. This study performed whole exome sequencing and trio-based genomic trangulation on a female with Noonan Syndrom to identify candidate variants and MRAS as a susceptibility gene.
- Evica Rajcan-Separovic, Flamingo Tang and Jila Datan of UBC, along with their colleagues, published Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication in BMC Medical Genetics. This study used WES to look for genomic alterations that could explain clinical variability in a family with a boy presenting neurodevelopmental disorders.
- In Clinical Ophthalmology, Masaki Takeuchi of Yokohama City University and colleagues published Analysis of the association between the LUM rs3759223 variant and high myopia in a Japanese population which investigated the relationship of the lumican gene variant with the risk of high myopia using the TaqMan assay for genotyping.
- Kwan-Suk Kim of Chungbuk National University and colleagues published Association of MITF loci with coat color spotting patterns in Ethiopian cattle in Genes & Genomics which attempted to identify and map the genetic bases of coat color variation in the cattle using GWAS.
- And last but certainly not least, Kazima Bulayeva of the Vavilov Institute of General Genetics and colleagues published Descriptions and Methods of Study in Selected Genetic Isolates of Dagestan, a book focused on the genetics of schizophrenia in four genetic isolates in Dagestan and how they ascertained extended pedigrees with aggregation of the diseases.