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GenomeQuest Awards $120K Worth of Support to Six Labs Developing NGS-based Tests

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GenomeQuest said this week that it will provide software and services to six laboratories that are working on developing next-generation sequencing-based tests.

The labs were selected as part of the GenomeQuest Lab Grant Program, which the company launched in November to support labs that are consolidating multiple Sanger-based gene panel tests into a single, comprehensive NGS-based test (BI 11/4/2011).

GenomeQuest said this week that it will provide about $120,000 worth of software, annotation data, and compute infrastructure for laboratory investigators to process and store their NGS data, produce diagnostic reports, and perform follow-up research on individual and aggregate results.

The labs, which each receive about $20,000 in resources, are developing tests in a range of areas, including rare genetic disorders, autism, cystic fibrosis, congenital heart disease, muscular dystrophy, and harmful bacterial pathogens.

The grant recipients and their areas of intended research include the following:

• Cincinnati Children's Hospital Medical Center, which will work on using NGS-based diagnostics to diagnose congenital heart disease, adult and pediatric cardiomyopathy, and cardiovascular disorders with genetic syndromes.

• The Institute of Genomic Medicine at the University of Medicine & Dentistry of New Jersey, which initially plans to use GenomeQuest's grant for cystic fibrosis gene testing, but could also focus on NGS testing for metabolic diseases.

• Nationwide Children's Hospital, which is currently conducting tests for congenital muscular dystrophies, will work on validating NGS testing for Noonan syndrome and related disorders; holoprosencephaly, a birth defect of the brain; and infertility.

• Researchers at the University of Massachusetts Medical School's molecular diagnostics lab plan to use NGS for genetic testing of cystic fibrosis, Ashkenazi Jewish diseases, heart disease, lysosomal storage disorders, and dwarfism, as well as to identify bacterial pathogens.

• Researchers in the laboratory medicine and pathology department of the University of Minnesota Medical School plan to use their grant to apply NGS to eight areas of interest: pediatric bone marrow transplantation, congenital eye disorders, familial cancer syndromes, cardiology, congenital hearing loss, neurogenetics/neuromuscular disorders, genetic and metabolic pediatric disorders, and intersex disorders.

• The University of Nebraska Medical Center plans to focus its testing on developmental disability/autism, connective tissue and cardiomyopathy, bone diseases, neurology, and amyotrophic lateral sclerosis.

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