Leukodystrophy Diagnoses Boosted by Exome Sequencing; Genome Sequencing Trial is Next | GenomeWeb

NEW YORK (GenomeWeb) – Exome sequencing solved 42 percent of patient cases of unresolved white matter abnormalities, according to a new study, boosting the overall diagnostic rate from 53 percent with standard imaging to almost 70 percent with a combination of the two approaches.

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In PLOS this week: role for Notch signaling in congenital heart disease, sciatica risk variants, and more.

Researchers in China have used the CRISPR/Cas9 genome editing approach to alter the length of hair fibers in cashmere goats.

According to ScienceInsider, the Scripps Research Institute and the California Institute for Biomedical Research are merging.

National Cancer Institute researchers didn't report severe adverse events to Food and Drug Administration in a timely manner, the Wall Street Journal reports.

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In this online seminar, speakers from the Center for Personalized Diagnostics at Penn Medicine will discuss the design and technical validation of a custom next-generation sequencing panel to detect mutations in a wide array of tumor types.