genetic disorders | GenomeWeb

genetic disorders

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

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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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Pacific Biosciences is hosting a competition in which researchers are vying to win free sequencing for an organism with the most interesting genome.

An opinion piece appearing in Newsday likens familial DNA searches to stop-and-frisk policies.

The San people of Africa have drawn up a code of conduct for researchers, according to the Conversation.

In Nature this week: genotypes linked to hip osteoarthritis, and more.