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Researchers using exome sequencing to study ADHD found rare mutations they think may be causing a patient's anemia, raising the question of how to handle unrelated findings in sequencing studies.

Omicia, which co-developed VAAST with Mark Yandell’s group at the University of Utah, is now working on integrating the algorithm into a platform called the Genome Analysis System, which it plans to release commercially at the end of the third quarter.

By identifying inherited, rare copy number variants specific to families affected by autism spectrum disorders, researchers have identified several biological pathways that may contribute to the disease.

Through a meta-analysis of gene-centric genotype data on more than 100,000 individuals, an international research team has identified common and relatively rare genetic variants associated with human height.

Paired Ends: Nov 30, 2010

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Vivian Cheung

By genotyping more than 1,000 individuals with anorexia nervosa and almost 4,000 unaffected controls, researchers have identified common SNPs and rare CNVs that appear to be linked to the condition.

While the findings could have implications for other common diseases, in particular neurological disorders such as autism or schizophrenia, several scientists say it is unlikely that rare mutations play an equally large role in common diseases with late onset, where natural selection has had a different effect.

Researchers from the Children's Hospital of Philadelphia and elsewhere have identified a handful of copy number variants that are associated with obesity in European American and African American children.

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Nearly 30,000 COVID-19 tests the UK sent to the US came back as void, according to the Telegraph.

Black principal investigators receive less favorable application scores when seeking US National Institutes of Health grants, the Chronicle of Higher Education reports.

New Scientist reports that both RNA and DNA may have been involved in the emergence of life on Earth.

In Nature this week: new Sperm-seq method enables crossover analysis, tumor-informed detection approach for minimal residual disease, and more.