Customer Snapshots: Case Studies of Variant Analysis Users

From 10 case studies of our Variant Analysis customers compiled by an independent, third-party survey company, we found that more users gather sequence data from multiple platforms than from a single model or vendor. Among customers who used a single type of instrument, Illumina platforms were the common choice — either GA/HiSeq or MiSeq. Customers with multi-platform data frequently added Life Technologies sequencers (SOLiD or PGM) or Complete Genomics.

One user whose lab has four platforms — GA/HiSeq, MiSeq, PGM, and Complete — is David Crockett, director of bioinformatics at ARUP Laboratories, who uses Variant Analysis for exome, genome, and gene panel sequence data. Crockett chose Variant Analysis over ANNOVAR, Cartagenia, Knome, VAAST, and in-house developed software for access to trusted data in the Ingenuity Knowledge Base and to collaborate more easily with colleagues. He told the survey firm that the Variant Analysis tool “provides easy access to excellent gene variant interpretation, especially for those without a bioinformatics background. It has also greatly reduced the time from variant call to seeing ‘final’ results.”


Another customer with access to multiple sequencing platforms is Cameron McDonald, a postdoctoral scientist at Queensland Institute of Medical Research. He uses Variant Analysis for whole exome and gene panel sequence information, reporting that the tool has been most useful for faster and easier identification of causal variants and for improved access to biological content, including primary sources. He says that the “reduced reliance on our bioinformatics team allows for faster turnaround for us, and thus greater availability of that team for other projects. The findings link to the supporting literature, which assists in identifying all the evidence that may otherwise have been missed.”


Another great testimonial came from Pankaj Kumar, a research analyst at Cornell University who uses Variant Analysis for whole genome sequences from the GA/HiSeq. He reports that Variant Analysis has saved him at least three days per sample for DNA variant annotation and analysis. “Identifying the causal variants supported by high confidence literature is the key thing in which our institute is interested,” he told the survey firm. “Ingenuity makes it so simple and easy.”


For a look at all of the case studies and more feedback from current customers, click here.