Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations

The Web Archives Workbench (WAW) Tool Suite: Taking an Archival Approach to the Preservation of Web Content

The ECHO DEPository (also known as ECHO DEP, an abbreviation for Exploring Collaborations to Harvest Objects in a Digital Environment for Preservation) is an NDIIPP-partner project led by the University of Illinois at Urbana-Champaign in collaboration with OCLC and a consortium of partners, including five state libraries and archives. A core deliverable of the project???s first phase was OCLC???s development of the Web Archives Workbench (WAW), an opensource suite of Web archiving tools for identifying, describing, and harvesting Web-based content for ingestion into an external digital repository. Released in October 2007, the suite is designed to bridge the gap between manual selection and automated capture based on the ???Arizona Model,??? which applies a traditional aggregate-based archival approach to Web archiving. Aggregate-based archiving refers to archiving items by group or in series, rather than individually. Core functionality of the suite includes the ability to identify Web content of potential interest through crawls of ???seed??? URLs and the domains they link to; tools for creating and managing metadata for association with harvested objects; website structural analysis and visualization to aid human content selection decisions; and packaging using a PREMIS-based METS profile developed by the ECHO DEPository to support easier ingestion into multiple repositories. This article provides background on the Arizona Model; an overview of how the tools work and their technical implementation; and a brief summary of user feedback from testing and implementing the tools.published or submitted for publicatio

Utility of an OAI Service Provider Search Portal

The Open Archives Initiative (OAI) Protocol for Metadata Harvesting (PMH) facilitates efficient interoperability between digital collections, in particular by enabling service providers to construct, with relatively modest effort, search portals that present aggregated metadata to specific communities. This paper describes the experiences of the University of Illinois at Urbana-Champaign Library as an OAI service provider. We discuss the creation of a search portal to an aggregation of metadata describing cultural heritage resources. We examine several key challenges posed by the aggregated metadata and present preliminary findings of a pilot study of the utility of the portal for a specific community (student teachers). We also comment briefly on the potential for using text analysis tools to uncover themes and relationships within the aggregated metadata.Research presented here funded by the Mellon Foundationpublished or submitted for publicationis peer reviewe

IDEALS Digital Preservation: Current Status and Future Directions

Ensuring that IDEALS is indeed worthy of the trust of the faculty, students, and staff of the institution requires careful and deliberate planning and ongoing attention to digital preservation. With this in mind, this white paper provides a roadmap for the implementation of a comprehensive digital preservation management program for IDEALS. Specifically, this paper: Presents the current state of digital preservation for the pilot stage (through Spring 2007) of IDEALS; Specifies the minimum requirements for the ongoing production???level service (Summer 2007 and forward); Recommends that IDEALS pursues certification as a Trusted Digital Repository for endorsement by the IDEALS Working Group and Steering Committee; and Identifies the next steps for moving towards compliance as a Trusted Digital Repository.unpublishednot peer reviewe

Harvesting cultural heritage metadata using the OAI protocol

In July of 2001, with funding from the Andrew W. Mellon Foundation, the University of Illinois at Urbana-Champaign undertook a project to test the efficacy of using the Open Archives Initiative Protocol for Metadata Harvesting to construct a search and discovery service focused on information resources in the domain of cultural heritage. To date, the Illinois project has indexed over two million Dublin Core metadata records contributed by 38 metadata repositories in the museum, academic library, and digital library project communities. These records describe a mix of digital and analog primary content. Our analysis of these metadata records demonstrates wide divergence in descriptive metadata practices and the use and interpretation of Dublin Core metadata elements. Differences are particularly notable by community. This article provides an overview of the Illinois project, presents quantitative data about divergent metadata practices and element usage patterns, and details implications for metadata providers and harvesting services.The University of Illinois Open Archives Initiative Metadata Harvesting Project, including the research described in this article, was funded by a grant from the Andrew W. Mellon Foundation.published or submitted for publicationis peer reviewe

Implementation of a Scholarly Information Portal Using the Open Archives Initiative Protocol for Metadata Harvesting

In June 2001, the University of Illinois at Urbana-Champaign was awarded funding from the Andrew W. Mellon Foundation to create a portal to facilitate access to scholarly cultural heritage information. The project was designed to investigate the efficacy of harvesting and aggregating metadata using the Open Archives Initiative (OAI) Protocol for Metadata Harvesting (PMH). Between its start date and its conclusion in May 2003, the project accomplished the following: * Developed robust, scalable tools supporting the harvest and aggregation of metadata. * Investigated issues relating to value-added metadata normalization, portal search interface design, presentation of search results, and integration of Encoded Archival Description (EAD) metadata with Dublin Core (DC) metadata * Sampled range of metadata authoring practices in domain of cultural heritage. * Demonstrated technical viability of search and retrieval across an aggregation of descriptive metadata harvested using the OAI-PMH. * Identified critical issues relating to use of OAI-PMH in domain of cultural heritage. * Tested usefulness and usability of search portal with one target user population. * Implemented infrastructure to maintain metadata search portal after end of project.Andrew W. Mellon FoundationOpe