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Investigators diagnosed additional Mendelian conditions with copy number variant analyses on pediatric patients who remained undiagnosed after exome sequencing.
Children's Hospital Los Angeles used a SARS-CoV-2 sequencing panel to determine if patients had become infected from the same source as healthcare workers.
At the NCI's Childhood Cancer Data Initiative Symposium, speakers emphasized measures such as data harmonization and the need for longitudinal data collection.
Though some experts prefer the comprehensive nature of whole-genome sequencing, others find whole-exome sequencing or targeted exome panels to be more useful.
The projects are organized by the Eliminate Cancer Initiative, the National Brain Tumor Society, and the Pediatric Brain Tumor Foundation.
Children's Hospital Los Angeles has agreed to implement Edico Genome's Dragen Bio-IT suite, including the somatic and RNA seq pipelines.
Researchers have been able to detect and characterize genomic alterations in DNA floating in the aqueous humor of the eye, opening the door to new prognostic studies.
The lab-developed test will use Thermo Fisher Scientific's Ion sequencing platform and will be applicable to most childhood cancers.
The consortium is composed of six children's hospitals including Children's Hospital Los Angeles; Rady Children's Hospital, San Diego; and Children's Hospital Colorado.
The new gene panel is based on DNA and RNA sequencing research and will utilize Thermo's Ion Torrent platform and Ion AmpliSeq technology.
An analysis of blood donations suggests SARS-CoV-2 was present in the US weeks earlier than thought, according to NPR.
The Guardian reports that DeepMind Technologies' AlphaFold can predict how proteins fold.
CNBC reports that a US Centers for Disease Control and Prevention advisory panel is to vote on how to distribute COVID-19 vaccines.
In PNAS this week: targeting progesterone signaling in ovarian cancer, LINE-1 retrotransposition events in adenocarcinomas, and more.