Innovative Genomic Analysis Solutions by Science Labs

Whole Exome Solution (WES)

Science Labs in collaboration with SOPHiA GENETICS®, the Global Leader in Data-Driven Medicine, implements an even more extended, highly reliable, genomic analysis; Whole Exome Solution (WES). This new, innovative approach allows for detailed analysis of more than 19.000 human protein coding genes, according to RefSeqGenes records, covering the “expressed” portion of the human genome.

 

Science Labs is the first and, to date, the only genomics analysis center in Greece to implement the Whole Exome Solution (WES), with the entire workflow performed at our state-of-the-art premises, using cutting edge technology and equipment and with experienced, specialized geneticists on our scientific team. Following nucleotide sequencing, data are transferred electronically to Sophia DDM® SaaS Analytics laboratory where specialized and accredited bioinformatics analysis is performed, while the data are safely stored for 10 years with the feasibility to retrieve and reanalyze them if the need is there.

Whole Exome Solution (WES), along with Clinical Exome Solution (CES), are assays developed by SOPHiA GENETICS®, the Global Leader in Data-Driven Medicine. Whole Exome Solution (WES) is a holistic approach, combining a superior wet lab design as well as an integrated bioinformatics analysis platform; Sophia DDM® SaaS Analytics.

Embedding the unique capture target enrichment technology and the use of NextSeq-500 NGS system (Illumina), WES analyses 39 million nucleotides, in genome protein coding regions which are expressed, covering approximately 19.000 genes, according to the RefSeq database. The assay is performed by a specialized analysis of all gene coding regions, their exon/intron boundaries as well as other known regulatory elements residing outside protein coding genes. So, by performing one single test, there is access to genetic information which would be very difficult to gain by performing separate tests in a single center.

Whole Exome Solution (WES) analysis method has a performance corresponding to that of Clinical Exome Solution (CES). It presents >99% sensitivity (>99% accuracy, >99% reproducibility), with an average coverage >50x at >96% and the greatest uniformity of target sequences, including highly demanding regions with a high GC content (i.e. promoter regions and gene’s first exons). These features are extremely important for the certainty of variant calls.

Based on its specialized design, Whole Exome Solution (WES) method has the most complete coverage of regions registered in the RefSeq database. This is of high importance, since findings that do not correspond to these regions are difficult to evaluate and interpret.


There are cases where the clinical diagnosis of a disease or disorder is unclear and for which genetic investigation and evidence is needed. Whole Exome Solution (WES), performed at Science Labs, may prove to be a valuable tool for many specialties’ practice such as pediatrics, cardiology, ophthalmology, endocrinology and others. It is a method that might give answers to clinical question where others, even advanced ones, fail to reveal the genetic background.

Whole Exome Solution (WES) is recommended in cases of complex phenotypes with a broad spectrum of clinical manifestations including but not limited to:

• Intellectual disability / developmental delay
• Cardiomyopathy
• Epilepsy
• Muscular dystrophy
• Ataxia
• Neuropathy
• Deafness
• Retinitis pigmentosa
• Bone and connective tissue disorders
• Undiagnosed metabolic disorder
• Short stature
• Complex dysmorphic features
• Immunodeficiency

Whole Exome Solution (WES) may prove to be valuable in cases where symptoms and clinical manifestations do not refer to a definite diagnosis. In these particular cases, interpretation of results is even more complicated.

Sequencing analysis of all protein coding genes, as in the case of Whole Exome Solution (WES), is in impressively extended genetic investigation, which generates an equally impressive volume of data. Huge datasets lead to complexity, which is reflected on the variety of results, which need to be interpreted. Therefore, detailed and thorough recording of clinical data concerning the individual tested and its biological parents is of great importance. In this context, during such extended investigations, it is recommended to co-examine all three individuals (TRIO testing), in order to decrease complexity in result interpretation. The aim is not to miss findings due to an incomplete medical history and, at the same time, avoid evaluating variants as clinically significant even if inherited from a healthy parent.


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