Customer success is very important to us at Golden Helix. Every month we showcase their success by putting together a blog post highlighting the most recent publications. We have been compiling this list since 2003 (you can find the full list here). Today, I am very honored to announce that the Golden Helix software has assisted in one thousand publications.
We have enjoyed global adoption of our various software packages. We do business with well over 350 organizations globally. Across our various software packages, we have thousands of users. On the research side, Golden Helix’s SVS software has been most notably useful for genome-wide association studies (GWAS), as well as genomic prediction and DNA-sequencing. Below you will find three noteworthy publications we saw in the last year.
- Dr. Folefac Aminkeng of the Canadian Pharmacogenomics Network for Drug Safety and the University of British Columbia and his colleagues published A coding variant in RARG confers susceptibility to anthracycline-induced cardiotoxicity in childhood cancer, in Nature Genetics. Aminkeng and his colleagues performed a genome-wide association study in 280 patients treated for childhood cancer to investigate the susceptibility to anthracycline-induced cardiotoxicity (ACT). ACT has been previously associated through candidate gene studies in the past, however studies lacked in size, replication and functional validation. However, the group’s work identified a nonsynonymous variant in RARG as being highly associated with ACT, altering function, which provides new insights into this severe drug reaction.
- Ligang Wang and Colleagues of the Chinese Academy of Agricultural Sciences published Copy number variation-based genome wide association study reveals additional variants contributing to meat quality in Swine in Nature’s Scientific Reports where they performed a genome-wide association study (GWAS) between CNVs and meat quality traits in swine.
- Karin Hardiman and Colleagues at the University of Michigan published Oral and Gastrointestinal Systems Intra-tumor genetic heterogeneity in rectal cancer in Nature’s Laboratory Investigation where they hypothesized the existence of significant intra-tumor genetic heterogeneity in rectal cancers involving variations in localized somatic mutations and copy number abnormalities.
Reaching the thousand citation mark this month coincidentally falls in the same month I published, together with Bryce Christensen, an article on “Concepts and Relevance of Genome-Wide Association Studies”, in Science Progress (Science Progress (2016), 99(1), 59 – 67, Paper 1500149 doi:10.3184/003685016X14558068452913). This article presents an overview of GWAS concepts: the underlying biology, the origins of the method, and the primary components of a GWAS experiment. You can read the full article here.
Again, I’d like to say “Thank you!” to our customers for the continued support and congratulate all published authors citing our software in their outstanding research. The work to enable the next 1,000 publications has already begun.