More articles about Inherited Disease

The company, a spinoff from genomics service provider Macrogen, plans to offer patients an exome test that screens for more than 4,000 rare diseases.

Under the collaboration, Asuragen will develop diagnostic kits for analyzing repeat sequences using Thermo Fisher's 3500 Dx Series Genetic Analyzer CS2 instrument.

The authors framed their report as a guidebook to help regulatory agencies across the globe coordinate "consistent" rules while allowing for societal differences.

At AGBT, an early adopter of Bionano's technology discussed how his lab is using it in conjunction with NGS to diagnose rare diseases. 

Marshall Summar

The new institute plans to use structured clinical information to inform targeted testing in order to cut down the time to diagnosis.

Under a five-year NIH grant, the researchers will evaluate whether earlier diagnosis of fragile X and SMA leads to earlier intervention and improved outcomes.

UT-SWMC researcher Eric Olson will study dystrophin produced with CRISPR/Cas9 genome editing in a mouse model, as well as off-target effects.

A British team discovered 14 novel genes associated with developmental disorders in addition to several new disorders linked to known genes.

The researchers plan to investigate whether whole-genome sequencing can cost-effectively improve the diagnostic rate for leukodsystrophy patients.

The researchers used both targeted and exome sequencing to genetically diagnose patients.

In a case study, the researchers used PacBio's Sequel instrument to identify a pathogenic deletion that had been missed by short-read sequencing technology.

NIH researchers got tantalizingly close to long-term engraftment at levels that could provide a clinical benefit in gene therapy applications.

The partners will work to offer panel-based genetic characterization for a US-based cohort.

The results begin to adress questions about whether the company's meticulous, but costly research services can actually impact patient outcomes.

The company has installed Illumina's HiSeq X sequencing platform and expects to sequence 20,000 genomes by the end of next year.

Invitae will test 1,000 breast cancer patients from TME practices using its hereditary cancer test, regardless of whether they meet current eligibility criteria.

The team is making several improvements to its MyGene2 platform portal in an attempt to encourage open sharing of genomic data.

Under the agreement, Roche Diagnostics will offer Good Start's GeneVu carrier screening test along with its Harmony NIPT.

Partners in the iHope program expect to sequence the genomes of 100 patients and parents in the first year who could not otherwise afford it. 

The Children's National team will return diagnostic results to patients and Regeneron will use the genomic data in its drug development pipeline. 

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Oxford researchers are turning to virtual reality to visualize genes and regulatory elements, Phys.org says.

The Jackson Laboratory has filed a complaint accusing Nanjing University of breeding and re-selling its mouse models, the Hartford Courant reports.

In Science this week: neutrophils rely on microRNA to protect against lung inflammation, and more.

China is moving forward with plans to sequence a million citizens, the Wall Street Journal reports.