CHOP researchers uncovered CNV associations with four disease categories: autoimmune, cardio-metabolic, oncologic, and neurological/psychiatric diseases.
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.
The Los Angeles Times reports that a case of the novel coronavirus making people ill in China has been reported in the US.
A bipartisan group of senators has introduced a bill seeking increased funding for certain fields, including synthetic biology, ScienceInsider reports.
Discover magazine writes that paleoproteomics is increasing being used in archaeology, paleoanthropology, and paleontology, including a recent study of a 6,000-year-old ring.
In Nucleic Acids Research this week: mutagenic effects of ultraviolet "A" light, post-transcription effects of synonymous mutations, and more.