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More articles about Advances in Clinical Genomics Profiling

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.

Using RNA and DNA sequencing to predict tumor site and detect gene alterations may allow patients with CUP to receive appropriate targeted treatment.

The researchers said their analysis of healthcare and exome data identified 285 genes overall that were significantly associated with developmental disorders.

Researchers identified one germline variant near TET2 that appears to be specific to individuals of African ancestry.

The findings demonstrate the value of multi-cohort platform trials as an option for refractory cancer patients with particularly rare genomic tumor alterations.

The initiative will build up pathogen sequencing capacity through investment from the Gates Foundation, Microsoft, Illumina, and Oxford Nanopore.

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.

Researchers found complex "rigma," "pyrgo," and "tyfona" structural variant classes by applying their new algorithm to thousands of cancer genomes.

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.

The strategy promises to offer patients the best possible predictive, preventative, and personalized care underpinned by genome sequencing.

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.

In the study, thirty percent of patients receiving a genome sequencing test obtained a new primary molecular genetic diagnosis.

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. 

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Reuters reports that Germany is seeking to sequence 5 percent of patient samples that test positive for SARS-CoV-2.

23andMe and Medscape say primary care physicians are increasingly more comfortable with discussing direct-to-consumer genetic testing results.

The publisher of the Science family of journals will allow some authors to place peer-reviewed versions of their papers into publicly accessible repositories.

In Science this week: analysis of genome-wide association studies of chronic kidney disease, and more.