Using tumor sequencing variant data, investigators identified clonal hematopoiesis mutations in blood that appear to be linked to therapy-related neoplasm risk.
More than 198,000 LOF variants turned up in exome sequences from 49,960 UK Biobank participants, including variants with potential ties to human traits.
The researchers said their analysis of healthcare and exome data identified 285 genes overall that were significantly associated with developmental disorders.
The findings demonstrate the value of multi-cohort platform trials as an option for refractory cancer patients with particularly rare genomic tumor alterations.
An Invitae-led retrospective study found almost a third of cancer patients who underwent germline genetic testing after tumor sequencing had pathogenic variants.
The effort, which will be the flagship project of the Children's Mercy Research Institute, aims to collect genomic data from 30,000 children and their families.
The researchers used tumor and germline whole-genome sequencing, RNA sequencing, and methylome analysis to elucidate the molecular basis of high-risk cancers.
Based on the study results, the score could be combined with other risk factors to improve predictions of contralateral breast cancer and stratify patients.
Sema4 will use its genomics testing abilities and Centrellis health intelligence platform to identify eligible patients for Janssen's oncology clinical trials.
Whole-exome sequencing of 250 parent-offspring trios provided evidence for genetically mediated dysregulation of early neuronal connectivity in cerebral palsy.
Investigators identified disease-associated histone modifications in the brain that appeared to influence transcription- and chromatin-related processes.
Interim results from a study in the Netherlands suggest whole-genome sequencing can be done fast enough to uncover treatment targets in metastatic cancer patients.
The program is in its third year monitoring individuals with these mutations to try to detect disease early, understand their risk, and develop preventive treatments.
The University of Michigan spinout will use the funds to develop its InheRET platform, increase integration with EHRs, as well as increase its workforce and userbase.
The publisher of the Science family of journals will allow some authors to place peer-reviewed versions of their papers into publicly accessible repositories.
