Tuesday, June 12, 2018 9:18:30 AM
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GeneDx Announces Completion of 100,000 Exome Sequences
GlobeNewswireJune 12, 2018
GAITHERSBURG, Md., June 12, 2018 (GLOBE NEWSWIRE) -- GeneDx, Inc., a subsidiary of OPKO’s BioReference Laboratories and a recognized leader in genetic testing, today announced that the Company has performed clinical Exome Sequencing on more than 100,000 individuals. This Company milestone represents one of the largest cohorts of sequenced exomes by an independent clinical laboratory in the world. It also greatly expands the database of known clinically relevant genetic variants used as tools to help diagnose rare diseases.
“This milestone is a huge step forward in patient care,” said Dr. Jane Juusola, Director of Clinical Genomics at GeneDx. “GeneDx was founded with the mission to help patients and families by making genetic testing available to as many people as possible. This large and unique data set will further help in providing answers for those who might otherwise go undiagnosed.”
Exome sequencing is a process by which the protein-coding genes in the human genome are sequenced. It is used to help diagnose disease by identifying variations in these genes that may lead to a variety of neurological, metabolic or other disorders. In total there are about 20,000 genes.
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