Hope everyone’s new year is off to a great start! Golden Helix has been having wonderful start and have so much to look forward throughout the year. We wanted to share with you the list of our first round of customer publications for 2016, enjoy!
- Petra Werner of the Children’s Hospital of Philadelphia and colleagues published MESP1 Mutations in Patients with Congenital Heart Defects in Human Mutation where they identified a microdeletion in a patient with a ventricular septal defect containing over 40 genes including MESP1 (mesoderm posterior basic helix-loop-helix transcription factor 1).
- E. Morgan and Eric Ontiveros of UC Davis and Colleagues published Identification of Genetic Markers for Ventricular Septal Defects in Arabian Horses in the Vetmed where they used Cardiac auscultation and echocardiographic evaluations to phenotype 13 affected and 38 normal Arabian horses.
- Steven Friedenberg of Notrth Carolina State University and colleagues published an abstract in Immuno Genetics where they conducted a candidate gene study of 15 of these genes across four immune-mediated diseases (immune-mediated hemolytic anemia, immune-mediated thrombocytopenia, immune-mediated polyarthritis (IMPA), and atopic dermatitis) in 195 affected and 206 unaffected dogs to assess whether causative or predictive polymorphisms might exist in similar genes in dogs. It is called: Evaluation of a DLA-79 allele associated with multiple immune-mediated diseases in dogs.
- Karen S. Ho of Lineagen and colleagues published Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome in The Journal of Medical Genetics where they finely mapped the breakpoints of copy number variants (CNVs) in 48 individuals with WHS.
- OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes was published in the Neurology by Orly Goldstein, Omri Nayshool and colleagues of the Tel-Aviv Sourasky Medical Center in which they analyzed 2 founder Jewish populations of Moroccan and Ashkenazi origins and ethnic matched controls.
- Yanhong Liu and colleagues of Baylor College of Medicine published Focused Analysis of Exome Sequencing Data for Rare Germline Mutations in Familial and Sporadic Lung Cancer in Journal of Thoracic Oncology where they used a variation of the extreme phenotype approach to select 48 patients with sporadic LC who reported histories of heavy smoking—37 of whom also exhibited carefully documented severe COPD (in whom smoking is considered the overwhelming determinant)—and 54 unique familial LC cases from families with at least three first-degree relatives with LC (who are likely enriched for genomic effects).
- Identification and validation of risk loci for osteochondrosis in standardbreds was published in BioMed Central where Annette McCoy, Rebecca Splan and colleagues of The University of Illinois at Urbana-Champaign used a cohort of Standardbred horses from the U.S. (n = 182) specifically selected for a shared early environment (to reduce confounding factors) to identify regions of the genome associated with tarsal OC.
- Mami Nishisako, Akira Meguro and colleagues at Yokohama City University published SLC1A1 Gene Variants and Normal Tension Glaucoma: An Association Study in Ophthalmic Genetics where they genotyped 12 single-nucleotide polymorphisms in SLC1A1. Also, they performed an imputation analysis to evaluate the potential association of un-genotyped SLC1A1 single-nucleotide polymorphisms, and 165 single-nucleotide polymorphisms were imputed.