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genetic disorders

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.

The Mayo team aims to launch MP-seq for hematological malignancies and constitutional diseases in the next year and for solid tumors one year later.

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At a meeting this week, researchers and others discussed the regulatory oversight needed for germline genome editing.

The US Food and Drug Administration has asked questions about Myriad Genetics' GeneSight test, according to Bloomberg.

Researchers report that neutrophil extracellular traps appear to binds gallstones together, according to New Scientist.

In Science this week: approach to infer genotype-by-environment interaction from genetic variants associated with phenotypic variability, and more.