Proceeds from the financing will allow SOPHiA to embark upon the next stage of its planned global expansion, aimed at satisfying growing clinical and biopharma demand for secure data pooling and knowledge sharing for healthcare professionals.
The GA4GH community has launched the Federated Analysis Systems Project, a collaborative effort between several work streams and driver projects to integrate multiple GA4GH standards and implement them at multiple institutions.
The new task order brings to about $175 million the cumulative value of task orders issued by the VA to Personalis, a Menlo Park, CA, company specializing in population sequencing and cancer genomics.
The study, published today in the American Journal of Human Genetics and details the extent to which the public are both unfamiliar with, and unwilling to participate in, genomic research.
To standardize symptom descriptions, the researchers used 286,085 terms from the Human Phenotype Ontology database to describe individual diagnoses. Overall, 102 distinct genotypes were found in the study group, with 36 causative genes.
Advanced data modeling and analytic techniques help clinicians better understand the complexity of the disease and drive continuous improvement from early detection through treatment and follow-up care.
Adoption of clinical genomics applications has been driven by increasingly scalable genomic technologies. Higher-throughput approaches to genetic testing have resulted in increased diagnostic yields and discovery coupled with advances in bioinformatic analysis tools.
The researchers found that population distribution of the disease-associated genetic variants differed depending on a person’s ethnic origin. Some of the variants in the ACE2 gene were linked to cardiovascular and lung conditions, whereas some in the TMPRSS2 gene were linked to different cancers.
“The ability to generate truly complete sequences of chromosomes and genomes is a technical feat that will help us gain a comprehensive understanding of genome function and inform the use of genomic information in medical care.” noted NHGRI Director Eric Green.
Developed in collaboration with researchers and clinicians at the Mayo Clinic, and other partners, Illumina says TruSight provides a turn-key solution to tackle the most critical, and challenging piece of incorporating whole-genome sequencing for the identification of rare genetic diseases.