sequencing-based diagnostics | GenomeWeb

sequencing-based diagnostics

In a cohort of some 300 people with intellectual disability, a genomic approach offered a likely diagnosis some 60 percent of the time.

Molecular Autopsy Consortium of Houston members outlined their recommendations for using molecular autopsy to investigate unexplained deaths in young people. 

Six percent of patients diagnosed by exome sequencing received more than one molecular diagnosis, which can be important for their clinical management.

The life sciences company can now offer its genetic tests in all 50 states in the US, as well as Canada and several other countries. 

The 95-gene test is for detecting leukemia, myelodysplastic syndromes, and myeloproliferative disorders and can return results in less than one week.

Sequencing technologies were more prevalent than ever at the Association for Molecular Pathology's corporate workshop day.

NEW YORK (GenomeWeb) – Foundation Medicine today said that it has signed a licensing deal with WuXi PharmaTech, enabling that firm to offer Foundation Medicine's genomic profiling technology to companies conducting clinical trials in China.

NEW YORK (GenomeWeb) – Despite a recent study that suggested array-based non-invasive prenatal testing may be an effective alternative to next-generation sequencing-based tests, Illumina appears unconcerned that its customers will switch platforms.

NEW YORK (GenomeWeb) – Med Fusion and GenomOncology have partnered to provide genomic profiles of patient tumors for treatment guidance and clinical trial enrollment, the companies said today.

NEW YORK (GenomeWeb) – Sequenom has purchased intellectual property from Isis Innovations covering noninvasive prenatal testing for nearly $14.6 million, the company said today.

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In Science this week: metagenomic-based technique for determining protein structure, and more.

An academic laments the rise of narcissism in the sciences, the Guardian reports.

Outgoing FDA commissioner Robert Califf writes in an editorial that the agency can help boost innovation.

The Trump transition team has asked NIH Director Francis Collins to remain at his post, though it's unclear for how long that will be.