This paper describes the use of a Bayesian network to provide context-aware shared control of a robot mobility aid for the frail blind. The robot mobility aid, PAM-AID, is a "smart walker" that aims to assist the frail and elderly blind to walk safely indoors. The Bayesian network combines user input with high-level information derived from the sensors to provide a context-aware estimate of the user's current navigation goals. This context-aware action selection mechanism facilitates the use of a very simple, low bandwidth user interface, which is critical for the elderly user group. The PAM-AID systems have been evaluated through a series of field trails involving over 30 potential users.
Purpose:
Develop an automated exome analysis workflow that can produce a very small number of candidate variants yet still detect different numbers of deleterious variants between probands and unaffected siblings.
Methods:
97 outbred nuclear families from the Undiagnosed Diseases Program/ Network included single probands and the corresponding unaffected sibling(s). SNP chip and exome analyses were performed on all, with proband and unaffected sibling considered independently as the target. The total burden of candidate genetic variants was summed for probands and siblings over all considered disease models.
Results:
Exome analysis workflow include automated programs for: ethnicity-matched genotype calling, salvage pathway for mendelian inconsistency, compound heterozygous recessive detection, BAM file regional curation, population frequency filtering, pedigree-aware BAM file noise evaluation, and exon deletion filtration. This workflow relied heavily on BAM file analysis. A greater average pathogenic variant number was found compared to unaffected siblings. This was significant (p<0.05) when using published recommended thresholds, and implies that causal variants are retained in many probands’ lists.
Conclusion:
Using Mendelian and non-Mendelian models, this agnostic exome analysis shows a difference between a small group of probands and their unaffected siblings. This workflow produces candidate lists small enough to pursue with laboratory validation.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.