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An analysis has found that the odds of getting a diagnosis through WES or WGS is 8.3 times greater than it is through chromosomal microarrays.
The institute will use the funds to continue combining genomic and digital technologies with bioinformatics to advance medical research and clinical care.
Miami-based Nicklaus will send patient blood samples to Rady Children's in San Diego for WGS, bioinformatics analysis, and initial clinical interpretation.
Only three out of 10 sequencing workflows detected all variants in a synthetic reference sample, according to a study presented at ACMG.
The team showed that sequencing can diagnose ill babies faster, leading to better outcomes and saving money by reducing unnecessary treatments and procedures.
Rady Children's Hospital researchers aim to get sequencing faster and faster to identify treatments for sick babies, Technology Review reports.
A Rady Children's Institute for Genomic Medicine team has set a Guinness Book of World Record, the San Diego Union-Tribune reports.
Researchers from Rady Children's Institute for Genomic Medicine said sequencing has clinical utility and is cost effective.
Fabric disclosed partnerships with Rady Children's Institute for Genomic Medicine, the Utah Genome Project, and Genomics England's 100,000 Genomes Project.
The partners will work together to develop Alexion's SmartPanel precision medicine platform for use in newborns with rare genetic disorders.
Nobel laureates and scientific societies urge NIH and the Department of Health and Human Services to revisit the recent decision to end funding for a coronavirus grant.
Bloomberg reports that BGI's SARS-CoV-2 testing sites in the Middle East have raised concerns among US officials.
A new Pew Research Center poll finds confidence in medical researchers has grown among US adults since the start of the coronavirus pandemic.
In Science this week: machine learning algorithm for faster Mendelian disorder diagnoses, gene linked to safe response to nitrogen-containing bisphosphonates, and more.