BCAUS Project description and consideration of separation of data and control

The commonly stated truths that data may be segregated from program control in generic expert system shells and that such tools support straightforward knowledge representation were examined. The ideal of separation of data from program control in expert systems is difficult to realize for a variety of reasons. One approach to achieving this goal is to integrate hybrid collections of specialized shells and tools instead of producing custom systems built with a single all purpose expert system tool. Aspects of these issues are examined in the context of a specific diagnostic expert system application, the Backup Control Mode Analysis and Utility System (BCAUS), being developed for the Gamma Ray Observatory (GRO) spacecraft. The project and the knowledge gained in working on the project are described

Human whole-exome genotype data for Alzheimer’s disease

The heterogeneity of the whole-exome sequencing (WES) data generation methods present a challenge to a joint analysis. Here we present a bioinformatics strategy for joint-calling 20,504 WES samples collected across nine studies and sequenced using ten capture kits in fourteen sequencing centers in the Alzheimer’s Disease Sequencing Project. The joint-genotype called variant-called format (VCF) file contains only positions within the union of capture kits. The VCF was then processed specifically to account for the batch effects arising from the use of different capture kits from different studies. We identified 8.2 million autosomal variants. 96.82% of the variants are high-quality, and are located in 28,579 Ensembl transcripts. 41% of the variants are intronic and 1.8% of the variants are with CADD &gt; 30, indicating they are of high predicted pathogenicity. Here we show our new strategy can generate high-quality data from processing these diversely generated WES samples. The improved ability to combine data sequenced in different batches benefits the whole genomics research community.</p