Many of our customers published throughout September using our SVS software, and we love sharing their work with you. There’s bound to be a topic among the wide variety we’ve highlighted here that will spark your interest!
- Maurico Arcos Burgos, Claudio Mastronardi and colleagues of the Australian National University published Mutations modifying sporadic Alzheimer’s disease age of onset in the American Journal of Medical Genetics which identified 20 pathogenic, genome-wide statistically significant mutations of major modifier effect on the age of onset in Alzheimer’s disease.
- Genome-wide association study for milk somatic cell score in holstein cattle using copy number variation as markers was published by Alessandro Bagnato of the University of Milan and colleagues in the Journal of Animal Breeding and Genetics. This study was aimed at identifying genomic regions explaining genetic variation of somatic cell count using CNVs as markers in the Holstein population.
- Linda Reis and Elena Semina of the Medical College of Wisconsin, along with colleagues, published Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataract in BMC Medical Genetics which analyzed whole exome sequencing data in a patient with congential cataracts and identified a pathogenic deletion.
- In the American Journal of Hematology, Daria Babushok, Monica Bessler and colleagues of the Children’s Hospital of Philadelphia published Clonal Hematopoiesis in Patients with Dyskeratosis Congenita which used a combination of X-inactivation, compariative WES and SNP-A analysis to evaluate for the presence of clonal hematopoiesis.
- Padma Nimmakayala and Umesh Reddy of West Virginia State University and colleagues published Genome-Wide Differentiation of Various Melon Horticultural Groups for Use in GWAS for Fruit Firmness and Construction of a High Resolution Genetic Map in Frontiers in Plant Science which used genotyping-by-squencing to generate 13,000+ SNP markers and anchored them to chromosomes to understand genome-wide fixation indicies between various melon morphotypes.
- Kung-Hao Liang Chang of Gung Memorial Hospital and colleagues published UGT2B28 genomic variation is associated with hepatitis B e-antigen seroconversion in response to antiviral therapy in Nature’s Scientific Reports. In this study, a GWAS was performed that compared untreated spontaneous recoverers versus entecavir-treated patients failing to achieve HBeAg seroconversion.