Starting with samples from an 11-year-old boy with spitzoid melanoma, researchers identified recurrent MAP3K8 fusions that may respond to MEK inhibitors.
A common variant polygenic risk score, rare cancer risk gene mutations, and prior treatments each provide clues to breast cancer risk in childhood cancer survivors.
A $5 million NIH grant will fund CPIC's ongoing work to develop PGx guidelines and an API for incorporating them into EHRs and clinical decision support systems.
The RNA-seq data, for nearly 40,000 cells from the developing mouse brain, can be explored through an interactive online interface called Cell Seek.
Researchers found that the diverse features in mixed phenotype acute leukemia may stem from early blood progenitor mutations.
A group led by St. Jude Children's Research Hospital integrated transcriptomic, epigenomic, proteomic, and phoshoproteomic data.
An international team found that survival estimates differed significantly between patients with germline mutations in different medulloblastoma predisposition genes.
St. Jude researchers found germline mutations in the transcription factor gene IKZF1 in 0.9 percent of presumed sporadic pediatric acute lymphoblastic leukemia cases.
St. Jude Cloud, powered by DNAnexus and Microsoft, offers free access to thousands of WGS records plus cloud-based visualization and computational tools.
Emilia Pinto and her colleagues are parsing the genetic landscape of adrenocortical tumors and collecting data in a registry.
At a meeting this week, researchers and others discussed the regulatory oversight needed for germline genome editing.
The US Food and Drug Administration has asked questions about Myriad Genetics' GeneSight test, according to Bloomberg.
Researchers report that neutrophil extracellular traps appear to binds gallstones together, according to New Scientist.
In Science this week: approach to infer genotype-by-environment interaction from genetic variants associated with phenotypic variability, and more.