Using high-resolution variant frequencies to empower clinical genome interpretation

Vehicle Cabin Noise Simulation due to High-frequencies Stimulation

In this paper, the acoustic environment in a vehicle cabin under the influence of highfrequencies aerodynamic sources has been studied. Some panels on the windshield, the roof, the doors, the front pillars, and the floor of a vehicle simulated as input source of noise when the car is moving at high speed, i.e. 112 km/h. The status of vehicle cabin in each of these modes has been studied and com...

Scripps Genome ADVISER: Annotation and Distributed Variant Interpretation SERver

Interpretation of human genomes is a major challenge. We present the Scripps Genome ADVISER (SG-ADVISER) suite, which aims to fill the gap between data generation and genome interpretation by performing holistic, in-depth, annotations and functional predictions on all variant types and effects. The SG-ADVISER suite includes a de-identification tool, a variant annotation web-server, and a user i...

Personal Cancer Genome Reporter: variant interpretation report for precision oncology.

Summary Individual tumor genomes pose a major challenge for clinical interpretation due to their unique sets of acquired mutations. There is a general scarcity of tools that can i) systematically interrogate cancer genomes in the context of diagnostic, prognostic, and therapeutic biomarkers, ii) prioritize and highlight the most important findings, and iii) present the results in a format acces...

Genome interpretation: Clinical correlation is recommended

In a brain MRI report, the following words often appear: “clinical clinicians, this would represent a need to submit more information correlation is recommended”. These words signify that inadequate clinical informationwas provided, or that an unexpectedfinding on theMRI should be assessed clinically. “Clinical correlation is recommended” is less common in a report about a single gene or simple...

Implantable Microsystems for High-Resolution Interfacing to the Brain