Children's Mercy

Part of the donation from the Hall Family Foundation and the Sunderland Foundationwill be used to expand the Center or Pediatric Genomic Medicine and to build a state-of-the-art genome center.

When it comes to fully enrolling infants in sequencing studies, parental enthusiasm sometimes seems to wane due to logistical considerations and privacy concerns. 

Stephen Kingsmore

As president and CEO of the Rady Pediatric Genomics and Systems Medicine Institute, Kingsmore will be working toward adopting genomics to transform pediatric care.

The researchers increased the test's sensitivity for nucleotide variants from less than 96 percent to 99.5 percent and reduced the time to provisional results from 50 hours to 26 hours.

The retrospective study, by researchers at Children's Mercy Kansas City, suggests the STAT-seq test has clinical utility in some patients.

The partners will collaborate on pediatric oncology research, with a goal of earning an NCI designation of Comprehensive Cancer Center.

baby

The study appears to be the only one of four that has launched 15 months after the awards were made, which may or may not be related to FDA oversight of the projects.

Researchers also plan to launch a prospective randomized clinical trial to test the effectiveness of whole-genome sequencing compared to the standard of care.

Children's Mercy Hospital is poised to update its rapid whole-genome sequencing protocol, known as STAT-seq, in an effort to bring the time needed for genome sequencing and analysis down to around 24 hours.

Children's Mercy Hospital has launched a next-generation sequencing-based test that assesses the coding regions of 514 genes implicated in more than 750 severe childhood-onset diseases.

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Researchers have found that the i-motif shape of DNA previously observed in the lab also exists in human cells, and that it may serve a purpose.

In PNAS this week: a genomic, transcriptomic, and metabolomic analysis of the tea plant, Arabidopsis thaliana's adaptations to specific local environments, and more.

In an against-all-odds twist, a researcher studying exceeding rare FOXG1 mutations discovers her daughter has the syndrome.

An effort by Genomics Medicine Ireland is creating a database of diseases based on the genomics of people in Ireland. It now is looking into the possibility of including Scotland in its work.