With ProteinPaint, investigators can visualize sequence mutations, gene fusions, and RNA expression to interpret patterns in germline and tumor samples.
More than 8 percent of pediatric cancer cases considered by the Pediatric Cancer Genome Project carried mutations affecting established cancer risk genes.
Exome and targeted gene sequencing uncovered germline variations in the ETV6 gene that may increase susceptibility to acute lymphoblastic leukemia.
St. Jude's Richard Webby will assess the performance of InDevR's FluChip-8G test on non-seasonal influenza viruses.
The funds will be used to expand the PharmGKB database and support the activities of the Clinical Pharmacogenetics Implementation Consortium.
The funding will support work identifying the mechanisms underlying the differential responses among pediatric and adult ALL patients to therapy.
Researchers found alterations that activate the RAS-MAPK pathway in 18 of 23 relapse neuroblastoma tumors tested.
A missense change in CDKN2A turned up through a genome-wide association study involving thousands of childhood acute lymphoblastic leukemia cases and controls.
By combining structural variants with read depth change data, the software is able to find CNAs in whole-genome sequence that other methods miss.
The group has developed tables that match genotype, phenotype, and clinical recommendations to help inform therapy choices at the point of care.
New US Department of Commerce rules will affect supercomputing in China, according to the Wall Street Journal.
A new analysis finds that it will be more than a century until female computer scientists publish at the same rate as their male counterparts, ScienceInsider reports.
Broad Institute researchers describe an approach they've dubbed "DNA microscopy."
In PLOS this week: epigenetic changes following hepatitis C virus treatment, metagenomic analysis of Ugandan children with febrile illness, and more.