Just as we expected, 2017 has kicked off with a flurry of new publications by our customers. We even had a publication from a client using our VarSeq software! Congratulations to all, please take a look at some of the articles we have highlighted below:
- Reza Sailani of Stanford University and colleagues published Association of AHSG with alopecia and mental retardation (APMR) syndrome in Human Genetics which presented whole-exome sequencing results of a large consanguineous family segregating APMR syndrome with seven affected family members.
- Gang Xie of the Mount Sinai School of Medicine and Xuemei Ji of Dartmouth College, along with colleagues, published Identification of functional and expression polymorphisms associated with risk for anti-neutrophil cytoplasmic autoantibody-associated vasculitis in Arthritis & Rheumatology. The goal of this study was to identify risk alleles relevant to the cause and biology of anti-neutrophil cytoplasmic antibody associated vasculitis.
- Nazzer Rizk of Qatar University and colleagues published Associations of Vitamin D Receptor Polymorphism rs1544410 with Adiposity Phenotypes in the Endocrinology & Metabolism International Journal which investigated the association between polymorphisms in VDR gene with obesity.
- Rare CNVs in Suicide Attempt include Schizophrenia-Associated Loci and Neurodevelopmental Genes: A Pilot Genome-Wide and Family-Based Study was published in PLOS One by Marcus Sokolowski of the Karolinska Institute and colleagues. The team found that preliminary observations indicated rare pathogenic CNVs affecting neurodevelopmental functions in a subset of suicide attempts.
- Stefano Pavan of the University of Bari, along with colleagues, published Genotyping-by-sequencing of a melon (Cucumis melo L.) germplasm collection from a secondary center of diversity highlights patterns of genetic variation and genomic features of different gene pools in BMC Genomics which reported the first successful application of genotyping-by-sequencing technology in melon!
- Xiaodong Jiao and Fielding Hejtmancik of the NIH-NEI and colleagues published Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy in the European Journal of Human Genetics, and the results expanded the mutation spectrum of CYP4V2 and provided insight into the origin of the mutation.