Cost-Effective Exome Analysis in Hereditary Diseases

GATC Biotech, a leading global provider of DNA sequencing services, has introduced a new product for all standard applications of whole exome sequencing. INVIEW Human Exome Explore applies streamlined workflows for cost-effective exome analysis with uncompromised data quality. The service makes exome sequencing more accessible to scientists working on improving the outcome for patients with genetic disorders.

“A positive impact for children and adults with inherited diseases is definitely possible with exome sequencing,” said Dr. Tobias Paprotka, Director of Research & Development at GATC Biotech. “A growing body of evidence supports the use of exome sequencing in the management of inherited disorders, but rapid implementation has been hindered by high costs. By providing more affordable exome analysis, we want to accelerate the molecular characterization of hereditary disease, which can lead to improved risk estimation, diagnosis and better treatment options for affected individuals.”

INVIEW Human Exome Explore offers superior exon coverage and high data reproducibility to enable accurate detection and annotation of common genomic alterations like single nucleotide variants (SNVs) and insertions and deletions (InDels). The service is especially beneficial for clinical research or studies on molecular evolution and polymorphisms in humans.

INVIEW Human Exome Advance, formerly INVIEW Human Exome, offers in-depth analysis of germline and somatic mutations even from low-input samples. INVIEW Human Exome Advance is perfectly suited for research needed to progress our understanding and treatment of diseases such as cancer.