Recent Customer Publications
We hope everyone had a Merry Christmas! The Golden Helix team is looking forward to the start of a new year, but first we wanted to share our last round of customer publications from 2015. Here’s to many more in 2016!
- Bishwa Sapkota and Dharambir Sanghera of the Oklahoma University Health Sciences Center and colleagues published The Genome-wide Association Study of 25(OH) Vitamin D Concentrations in Punjabi Sikhs: Results of the Asian Indian Diabetic Heart Study in The Journal of Steroid Biochemistry and Molecular Biology where they performed the first genome-wide association study (GWAS) of serum 25(OH)D on 3,538 individuals from this Punjabi Sikh population.
- Natalie Powers and Jeffrey Gruen of Yale University and colleagues published The regulatory element READ1 epistatically influences reading and language, with both deleterious and protective alleles in the Journal of Medical Genetics where they characterized associations between READ1 alleles and RD and LI in a large European cohort, and also assessed interactions between READ1 and KIAHap and their effect on performance on measures of reading, language and IQ.
- Eirunn Thun and Stephanie Le Hellard of Haukeland University Hospital and colleagues published an abstract in Sleep and Biological Rhythms where they investigated whether frequency variation in single nucleotide polymorphisms capturing genetic variation in genes involved in the regulation of circadian rhythms (clock genes) was associated with insomnia, sleepiness, and shift work disorder in a sample of Norwegian nurses employed in various work schedules. It was called: Circadian clock gene variants and insomnia, sleepiness, and shift work disorder.
- Jorge Velez and Mauricio Arcos-Burgos of Australian National University and colleagues published APOE*E2 allele delays age of onset in PSEN1 E280A Alzheimer’s disease in Molecular Psychiatry where they analyzed 50, 000 common and rare functional genomic variants from 71 individuals of the ‘Paisa’ pedigree, the world’s largest pedigree segregating a severe form of early-onset AD, who were affected carriers of the fully penetrant E280A mutation in the presenilin-1 (PSEN1) gene.
- Disrupted lymphocyte homeostasis in hepatitis-associated acquired aplastic anemia is associated with short telomeres was published in the American Journal of Hematology by Daria Babushok and colleagues of the Children’s Hospital of Philadelphia where they performed a retrospective analysis of TL in ten consecutively-enrolled HAA patients compared to nineteen patients with idiopathic AA (IAA) to evaluate the reliability of TL in the HAA population.
- Claudio Mastronardi and colleagues of the Australian National University published Linkage and association analysis of ADHD endophenotypes in extended and multigenerational pedigrees from a genetic isolate in Molecular Psychiatry where they found genomic regions previously implicated in ADHD linked to our endophenotypes in chromosomes 4q13.2, 5q33.3, 11p15.5, 12p11.23 and 17p11. The overlapping of our linked regions to endophenotypes, that is, 2p24.2, 13q31.1, 15q23 and 12p11.23 to those reported by other studies is very difficult to demonstrate without applying a formal meta-analysis.
- Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome was published in AJHG where Tingwei Guo and colleagues of Albert Einstein College performed whole exome sequence (WES) to identify genetic modifiers on 184 individuals with 22q11.2 deletion syndrome (22q11DS).
- Marlies Dolezal and Colleagues at the University of Milan published GWAS on Imputed high density SNP genotypes on the Italian and Swiss Brown dairy cattle population for milk somatic cell count in ResearchGate where they identified regions underlying phenotypic variation for mastitis resistance in the Brown Swiss dairy cattle population.