Oct 10, 2014
LEUVEN, Belgium — October 10, 2014 — Today, Diploid announces the availability of its genome interpretation service. The service analyzes next generation sequencing data, annotating and identifying novel and known pathogenic variants underlying rare genetic conditions.
“With plummeting sequencing costs, exome and whole genome sequencing are rapidly replacing traditional sequencing techniques,” says Dr. Peter Schols, Diploid's CEO. While these next generation sequencing technologies have proven their value in clinical practice, the amount of data generated is staggering. As a result, the bottleneck will increasingly become the costly and labor- intensive aspect of interpreting genomic data. With Diploid, medical genetics departments, pharmaceutical research centers and private sequencing labs can now outsource the actual interpretation.
Using Diploid's award-winning system for human genome analysis, including markers for over 1,800 conditions as well as a pipeline for identification of novel variants, Diploid provides one of the most comprehensive analysis platforms currently available. Clients submit raw genetic data (vcf or bam files) together with phenotype data. Within 14 business days, Diploid delivers extensive reports pinpointing the most likely causal variants. These reports include background information and literature references, as well as a description of the filtering and annotation procedure. As a result, scientists can easily reproduce and verify Diploid's analyses.
Diploid geneticists remain available 7 days a week to answer any questions. Analyses start at $740 USD per sample (for either exome or whole genome data) for multi-sample orders. Diploid offers free interpretation of the first genome or exome, allowing prospective clients to become familiar with the service.
Dr. Peter Schols
+1 855-855-6501 (US toll free number)