Radboud University Medical Centre | GenomeWeb

Radboud University Medical Centre

One group pointed out differences between study group characteristics, while the other wondered about the role of patient preference.

Researchers identified some 1.9 million structural variants using whole-genome sequence data from 250 families profiled for the Genome of the Netherlands project.

A team from Radboud University in the Netherlands performed a new detailed and transparent cost analysis for sequencing based on both static costs, and factors that may differ from institution to institution.

Exome sequences from thousands of parent-child trios led to 10 new genes in which de novo mutations are over-represented in individuals with intellectual disability. 

The firm's SelectMDx prostate cancer test will be used in conjunction with MRI to evaluate their combined effectiveness in nominating patients for prostate biopsy.

Through exome and targeted sequencing, researchers identified de novo mutations in at least two genes involved in a condition called Möbius syndrome.

The study identified five SNPs significantly associated with five-year progression-free survival and defined risk groups with widely different risks of disease recurrence.

After further validation, Thermo Fisher commercially launched a CE-IVD version of the same panel last month.

NEW YORK (GenomeWeb) – The Netherlands is in the midst of a nationwide study of noninvasive prenatal testing to provide it with the scientific data needed to help decide whether and how to implement the test as part of the country's prenatal screening program.

NEW YORK (GenomeWeb News) – A new study in the New England Journal of Medicine is underscoring the importance of de novo mutations in non-syndromic intellectual disability, while highlighting the potential of using exome sequencing to diagnose severe intellectual disability case

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In Genome Biology this week: comparative genomics study of Aspergillus, genetic variation in indigenous African cattle, and more.

Some people who harbor genetic variants associated with disease show no signs and may give insight into the continuum of symptoms, Spectrum reports.

Some 57 snow monkeys at a Japanese zoo were found to be rhesus macaque hybrids, which are banned in Japan.

British researchers say they've been removed from EU grant applications, according to the Guardian.