Metabolon will work with Johns Hopkins University and Tufts Medical Center to develop and clinically validate the new blood-based diagnostic.
The Johns Hopkins University-led team developed a model to gauge absolute breast cancer risk based on genetic, other non-modifiable, and modifiable factors.
When molecular testing did affect the surgical plan, it often led to overtreatment, according to the Johns Hopkins University School of Medicine team.
JHU's Alexis Battle is using whole-genome sequencing and RNA-sequencing data to identify and study the functional effects of rare non-coding variants.
Researchers have found nearly 175 genomic loci that are differentially methylated in people with schizophrenia.
At the ACMG annual meeting, researchers from Baylor and Johns Hopkins reported on strategies for improving the diagnostic rate of exome sequencing.
For several reasons, scientists, as well as gene editing therapy company Editas, think that the first clinical trials for CRISPR-based cures will be for hereditary eye diseases.
The agency is funding genome sequencing and analysis centers to research the genomic basis of common diseases, as well as ongoing rare disease research.
At the AMP meeting this week, JHU's Sara Sukumar discussed efforts to adapt a cell-free methylated DNA assay for breast cancer to a Cepheid Xpert cartridge.
The initial phase of GENIE, which stands for Genomics, Evidence, Neoplasia, Information, Exchange, involves seven founding members and two informatics partners.
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.