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One Genetics Disease Panel, No Design Fees, and Bioinformatics Software Loved by All

by
Linda Seaton
| Jul 09, 2014

Director of the Center for Medical Genetics at Keio University School of MedicineDr. Kenjiro Kosaki was weary of creating custom panels of genes linked to congenital malformation syndrome for his research. The design fees and custom primer development were tiresome. Furthermore, as the new Director of the Center for Medical Genetics at Keio University School of Medicine, he now served a larger community of clinicians and didn’t have the primers for other fields of genetic study.

The TruSight One Sequencing Panel met his needs, incorporating more than 4,000 genes associated with known clinical phenotypes, including congenital malformation syndrome. No more primer development, primer refrigeration, or time-consuming trio analysis.  His team just sequences a single sample with the TruSight One panel on the MiSeq System.

His laboratory staff is thrilled with the easy workflow, speedy analysis, and especially the elegant variant analysis software (VariantStudio) that enables them to extract and report on only the variants of interest. It eliminates the need to write Linux scripts, something Dr. Kosaki enjoys, but his laboratory staff does not. So everyone in the laboratory is happy, including the large community of physicians the team serves.

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