A family-based analysis led to an X chromosome variant in MAGEC3 that appeared to contribute to early-onset ovarian cancer risk in sisters and their paternal grandmothers.
The Regeneron Genetics Center will sequence the full exomes of all DNA samples in the non-profit group's open-access biospecimen repository.
The company has also developed two liquid biopsy cancer test, Liquid GPS Core for DNA and Liquid GPS Expression for RNA.
Using exome sequence and questionnaire data, researchers saw links between motor skills and likely gene disruptive or missense de novo mutations.
Independent research teams identified mutations in a chloride ion channel gene in some cases of aldosteronism, a condition that can cause severe hypertension.
Researchers found rare mutations in USP45 and ARID1A by applying a shared genomic segment mapping approach to several large multiple myeloma-affected families.
Genome Canada and its partners recently funded two new initiatives with C$255 that will back precision medicine, genomics, and technology development.
The company launched in 2013 as a spinout from Boston Children's Hospital to provide genetic diagnostic tests.
Funded with €15.4 million from the EU's Horizon 2020 program, the researchers plan to reanalyze almost 20,000 patient exomes and conduct additional tests on selected subgroups.
Family members with diabetes and others with insulinomatosis both harbor the same missense MAFA mutation.
A new study in JAMA finds that genetic tests might not be able to determine what diet is right for someone seeking to lose weight.
A genome-wide association study that linked common genetic variants to salivary gland carcinoma risk has been retracted, according to Retraction Watch.
Vampire bats' ability to live off blood is etched in their genomes and gut microbiomes, the Scientist reports.
In Genome Biology this week: peopling of the Sahara, epigenetic reprogramming analysis of liverwort, and more.