Andrew Nightingale

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We describe how system design consistency can be maintained across multiple levels of design abstraction using a modular verification IP strategy. This strategy involves delivery of verification IP in an environment independent manner, utilizing a standard system verification architecture that leverages re-usable component verification drivers,(More)
Charcot-Marie-Tooth disease (CMT) is an inherited peripheral neuropathy that has been linked to mutations in multiple genes. Mutations in the neurofilament light (NFL) chain gene lead to the CMT2E form whereas mutations in the myotubularin-related protein 2 and 13 (MTMR2 and MTMR13) genes lead to the CMT4B form. These two forms share characteristic(More)
Motivation: Studying the pattern of genetic variants is a primary step in deciphering the basis of biological diversity, identifying key 'driver variants' that affect disease states and evolution of a species. Catalogs of genetic variants contain vast numbers of variants and are growing at an exponential rate, but lack an interactive exploratory interface.(More)
The Proteins API provides searching and programmatic access to protein and associated genomics data such as curated protein sequence positional annotations from UniProtKB, as well as mapped variation and proteomics data from large scale data sources (LSS). Using the coordinates service, researchers are able to retrieve the genomic sequence coordinates for(More)
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