We want to say congratulations to all of our customers who have recently published! It’s always great to see all the new research and advancements our clients are doing, and how the Golden Helix software is assisting in that. With that, here are the most recent customer publications for the month!
- L. Nguyen and Russel Lyons of the University of Queensland published Effects of TEX11 and Polymorphims on Reproduction and Growth Traits in Australian Beed Cattle. in PAABG where they found an association between an SNP in TEX11 and weight measurements.
- Marina Fortes of the University of Queensland and colleagues published an abstract in PAABG where they reported on the association with reproductive phenotypes of a genetic marker mapped to the HELB gene, in tropically adapted beef cattle. The genetic marker is a single nucleotide polymorphism (SNP) in chromosome 5 that is non-synonymous and has a predicted deleterious effect on the coded protein. It is called: Non-Synonimous Polymorphism in Helb is Associated With Male and Female Reproductive Traits in Cattle.
- Farai Muchadeyi of the Agricultural Research Council and colleagues published Runs of Homozygosity in Swakara Pelt Producing Sheep: Implications on Sub-Vital Performance in PAABG they aimed to use the Ovine SNP50K data to investigate inbreeding levels and occurrence of ROH in the Swakara sheep genome in order to uncover the genetic basis of sub-vital performance.
- RNA sequencing reveals the consequences of a novel insertion in dedicator of cytokinesis-8 was published in the Journal of Allergy and Clinical Immunology by Shaheen Khan, Edward Wakeland and colleagues of the University of Texas -Southwestern Medical Center noted that recent clinical approaches to identify novel mutations in genes causing PIDs have included both whole-genome sequencing and whole-exome sequencing. Yet, those technologies cannot uncover all potential causes of PIDs, especially given that 70% of the human genome is transcribed into noncoding RNAs.
- Alejandra Villarreal‑Martínez and colleagues of the University Hospital published Candidate gene polymorphisms and risk of psoriasis: A pilot study in Experimental and Therapeutic Medicine where they aimed to investigate the genotypic and allelic frequencies of 32 SNPs at 24 genetic loci, and their association with psoriasis in a Mexican population.
- Effective quality management practices in routine clinical next-generation sequencing was published in Clinical Chemistry and Laboratory Medicine where Francine B. de Abreu, Jason Peterson and colleagues of Dartmouth-Hitchcock Medical Center established a next-generation sequencing (NGS) test to screen for somatic variants in primary or advanced cancers.
- Ying Qiao, Flamingo Tang, and colleagues at the Child and Family Research Institute published Whole Exome Sequencing in Recurrent Early Pregnancy Loss (RPL) in Molecular Human Reproduction where they identified compound heterozygous deleterious mutations affecting DYNC2H1 and ALOX15 in two out of four families with RPL.