The solution uses machine learning to pare down somatic variant lists, simplifying the task of manually reviewing the output of sequence analysis pipelines.
The company has not released data on its method, but describes a circulating tumor DNA approach that has similarities to what other firms are pursuing.
Using genotype and phenotype data from the UK Biobank project, a Stanford investigator uncovered variants linked to low bone mineral density.
Using the method, the researchers predicted the effects of over 140 million mutations in different tissues and identified mutations possibly associated with increased risk of several immune diseases.
The team came up with an algorithm called bloodTyper for antigen-typing based on whole-genome sequences.
MIT and Stanford computer scientists developed a technique for secure, massively scalable genomic analysis that they hope will unleash greater data sharing.
In Genome Biology this week: transcription factor use among brittle stars, single-cell RNA sequencing strategy, and more.
The latest release of Sophia AI merges imaging analysis with genomic medicine in pursuit of better diagnosis and treatment.
Sentieon will integrate its DNAseq and TNseq variant-calling technology into Qiagen's CLC Genomics Workbench and the Qiagen Clinical Insight platform.
A study led by Johns Hopkins describes a method for automating slow, inaccurate manual chart review when searching for signs of misdiagnosis.
Publication of He Jiankui's work on gene-edited infants would raise ethical concerns for journals, Wired and others report.
The New York Times reports that evidence linking trauma in one generation to epigenetic effects that influence subsequent generations may be overstated.
ScienceInsider reports that US National Institutes of Health researchers were told in the fall they could not obtain new human fetal tissue.
In PNAS this week: skin pigmentation evolution among KhoeSan, biomarkers for dengue virus progression, and more.