University Medical Center Utrecht

In Genome Research this week: computational method for detecting repeat expansions, approach to find mosaic structural changes, and more.

The researchers particularly highlighted C21orf2 and NEK1, which are involved in cilial and mitochondrial function.

While unsolicited germline findings in cancer patients were rare, they made the researchers reevaluate their pre-test counseling, informed consent, and reporting process.

Using whole-exome sequencing early in the diagnostic process could save $3,500 on average in patients who obtain a diagnosis from it and $1,700 in patients who do not.

The University Medical Center Utrecht researchers' epigenomic analysis of primate brains uncovered human-specific cis gene-regulatory changes.

Researchers from the University Medical Center Utrecht reported that complex chromosome rearrangements in healthy mothers could lead to gene-dosage changes in their children.

NEW YORK (GenomeWeb News) – A group of Dutch-led research partners will use a €1.2 million ($1.5 million) grant awarded under a collaboration with Stand Up 2 Cancer (SU2C) to fund a genomics-based project seeking to use tumor profiles to predict patient response to cancer treatments.

Cytogeneticists are increasingly adopting chromosomal microarrays for prenatal diagnostics, but have not yet reached a consensus when it comes to what kinds of cases should undergo array-based screening and which platform is best to use.

China's BGI has partnered with Utrecht University and the University Medical Center Utrecht in the Netherlands to conduct genomics research, the institutions said this week.

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Rare gene mutations are guiding the search for drugs to manage chronic pain without opioids, according to CNBC.

The new Francis Crick Institute building can get too noisy for some researchers to concentrate, according to the Guardian.

CBS News reports that there are still many vacancies at the White House Office of Science and Technology Policy, but that it's uncertain whether they will be filled.

In Nucleic Acids Research this week: pipeline to analyze and visualize bacterial genomes, database of global set of human genomes, and more.