The researchers were able to diagnose 17 patients with short telomere syndrome based on telomere length combined with targeted sequence data.
Researchers uncovered subclones within pediatric glioblastoma and diffuse intrinsic pontine glioma patients that influence the abilities of neighboring cells.
Using exome sequences from individuals with developmental delays, heart defects, and limb abnormalities, investigators identified four TRAF7 mutations.
The company plans to use the new funding to grow its suite of genomics applications to more than 50 in 2018.
The firm acquired startup HumanCode, which had developed genetic testing apps around ancestry and wellness for the Helix platform.
Using exome sequences for 6,753 parent-child trios, researchers saw genes with increased de novo variant burdens in neurodevelopmental disorders with epilepsy.
Using omics and other data, researchers performed network analyses that pointed to interactions between human herpesviruses and other Alzheimer's disease risk factors.
Researchers provided genetic diagnoses for about 68 percent of their primary antibody deficiency cohort, which altered clinical management in about half of them.
By analyzing more than 100 testicular germ cell tumors, investigators characterized mutation, methylation, and other patterns in four histological subtypes of the disease.
In a family with unusually low LDL cholesterol levels, researchers in China found a variant in the LIMA1 gene through exome sequencing.
In a commentary at eLife, Brandeis University's Eve Marder calls on researchers to value and pursue truth.
Researchers have developed a way to quickly edit white blood cells, according to the New York Times.
In Science this week: rice gene enables plants to grow quickly in times of flooding, and more.
Education-linked genetic variants could also predict a small portion of a person's social mobility, Newsweek reports.