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genetic disorders

Rainbow Genomics will offer exome-sequencing based screening and diagnostic tests developed by Baylor Genetics to patients in Asia.

Paralogs may compensate for a mutated gene in tissues other than the disease-affected ones, researchers from Ben-Gurion University of the Negev in Israel found.

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.

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GenomeWeb reports that Veritas Genetics is suspending its US operations.

A Brazilian-led team of researchers reports it has generated a sugarcane genome assembly that encompasses more than 99 percent of its genome.

Certain plasma proteins could be used to gauge a person's age and whether they are aging well, according to HealthDay News.

In Science this week: approach to measure microRNA targeting efficiency, strategy to conduct high-throughput chemical screens at single-cell resolution, and more.