DNA sequence and annotation of the entire human chromosome 7, encompassing nearly 158 million nucleotides of DNA and 1917 gene structures, are presented. To generate a higher order description, additional structural features such as imprinted genes, fragile sites, and segmental duplications were integrated at the level of the DNA sequence with medical genetic data, including 440 chromosome rearrangement breakpoints associated with disease. This approach enabled the discovery of candidate genes for developmental diseases including autism.

Many keyword queries issued to Web search engines target information about real world entities, and interpreting these queries over Web knowledge bases can often enable the search system to provide exact answers to queries. Equally important is the problem of detecting when the reference knowledge base is not capable of answering the keyword query, due to lack of domain coverage.In this work we present an approach to computing structured representations of keyword queries over a reference knowledge base. We mine frequent query structures from a Web query log and map these structures into a reference knowledge base. Our approach exploits coarse linguistic structure in keyword queries, and combines it with rich structured query representations of information needs.

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