genetic disorders

Undiagnosed Disease Network researchers used exome sequencing to diagnose more than one-quarter of individuals previously denied clinical exome reimbursement.

UK regulators have given the clinic the green light to offer the service, the Guardian reports.

For New Skin

Technology Review writes that gene therapy might be able to help people with epidermolysis bullosa.

The approach, which uses 10x Genomics technology for haplotyping, requires neither mutation-specific assays nor DNA from affected family members.

The company launched an updated version of its Face2Gene software suite earlier this month at the American Society of Human Genetics annual meeting.

Fulcrum, a startup pharmaceutical company, is looking for druggable targets to regulate gene expression in genetic diseases where few treatment options exist. 

The partners will evaluate various established research solutions including a number of variant calling methods for potential clinical use.

The recommendations resulted from two meetings that brought together physicians, lab workers, researchers, genetic counselors, and patient families from the US and Canada.

The 1000 Genomes Project Consortium has shared their results with the scientific community in hopes of gaining insight into disease genomics.

The software offers data processing and management capabilities that are designed to support more automated and efficient whole-exome sequencing-based testing.

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A fire at a Manchester hospital may have destroyed lab equipment and data, the Guardian reports.

Researchers generate a genetic database from skeletal remains from the 1845 Franklin Expedition to the Arctic, Live Science reports.

Researchers in China have begun another trial using CRISPR/Cas9 approaches in cancer patients, according to the Wall Street Journal.

In Science this week: human DNA found in sediments from archeological sites lacking bones, and more.