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Researchers in the US and the United Arab Emirates found that RNA-seq in B-lymphoblastoid cell lines can help identify pathogenic variants that DNA testing missed.
The Genomics Research and Innovation Network has built an open-source system for querying genotype-phenotype databases at its member hospitals.
The Genomics Research and Innovation Network (GRIN) is a federated platform from three major pediatric hospitals to assist in research and treatment of rare diseases.
At the NCI's Childhood Cancer Data Initiative Symposium, speakers emphasized measures such as data harmonization and the need for longitudinal data collection.
In PNAS this week: mathematical model of metastatic seeding, mitochondrial mutation effects, and more.
Functional analyses indicated that the de novo variant in AP2M1 found in four patients affects clathrin-mediated endocytosis and synaptic vesicle recycling.
At the ACMG meeting, a Children's Hospital of Philadelphia researcher described finding relatively high rates of hereditary cancer variants in tumor sequence data.
DARTS uses deep learning-based techniques to leverage public RNA-sequencing datasets to make predictions about alternative splicing in individuals datasets.
The effort, outlined in a Development Cell paper published online today, aims to complement the ongoing Human Cell Atlas initiative, but with a focus on pediatric health.
This embargo-free strategy represents "an entirely new way of doing research" into rare pediatric cancers, where time is of the essence.
In a letter, about two dozen researchers criticize the World Health Organization investigation into the origins of SARS-CoV-2 and call for a new inquiry, the Wall Street Journal reports.
National Geographic reports that nine great apes at the San Diego Zoo have been vaccinated against SARS-CoV-2.
Janet Woodcock, the acting commissioner of the US Food and Drug Administration, speaks with NPR about SARS-CoV-2 testing and vaccines in the US.
In Science this week: genetic study of kidney fibrosis implicates the SOX9-NAV3-YAP1 axis.