Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

To assess factors influencing the success of whole-genome sequencing for mainstream clinical diagnosis, we sequenced 217 individuals from 156 independent cases or families across a broad spectrum of disorders in whom previous screening had identified no pathogenic variants. We quantified the number of candidate variants identified using different strategies for variant calling, filtering, annotation and prioritization. We found that jointly calling variants across samples, filtering against both local and external databases, deploying multiple annotation tools and using familial transmission above biological plausibility contributed to accuracy. Overall, we identified disease-causing variants in 21% of cases, with the proportion increasing to 34% (23/68) for mendelian disorders and 57% (8/14) in family trios. We also discovered 32 potentially clinically actionable variants in 18 genes unrelated to the referral disorder, although only 4 were ultimately considered reportable. Our results demonstrate the value of genome sequencing for routine clinical diagnosis but also highlight many outstanding challenges.

Vindicating Analyticity: Critical notice of Truth in Virtue of Meaning, by Gillian Russell

European Community's Seventh Framework Programme FP7/2007-2013 under grant agreement no. 238128

A Program of Original Compositions, May 6, 1943

Concert Program for A Program of Original Compositions, May 6, 1943

Davis, ou Le bonheur d'être fou : comédie-vaudeville en 2 actes / par M. N. Fournier...

Collection : Magasin théâtral

Ed Davis Award

Ed Davis, former hockey coach, with Glen Craig, recipient of the Ed Davis Award for being the team's most valuable player.

The Ed Davis Awards

Dave Burt receiving the Ed Davis Award for Most Valuable Player on one occasion out of the three times he did.

Architectural rendering of Davis Apartments, Chapman College, Orange, California

Davis Community Center and Apartments opened September, 1974 at 625 North Grand Street, Orange, California, named in honor of Chapman College's fourth president, Dr. John L. Davis. The five two-story apartment buildings were designed by Harold Gimeno & Associates of Santa Ana and built by the J. Ray Construction Company, Inc. of Costa Mesa.

Davis Community Center and Apartments, Chapman College, Orange, California

Davis Community Center and Apartments opened September, 1974 at 625 North Grand Street, Orange, California, named in honor of Chapman College's fourth president, Dr. John L. Davis. The five two-story apartment buildings were designed by Harold Gimeno & Associates of Santa Ana and built by the J. Ray Construction Company, Inc. of Costa Mesa.

Davis Community Center and Apartments, Chapman College, Orange, California

Davis Community Center and Apartments opened September, 1974, at 625 North Grand Street, Orange, California, named in honor of Chapman College's fourth president, Dr. John L. Davis. The five two-story apartment buildings were designed by Harold Gimeno & Associates of Santa Ana and built by the J. Ray Construction Company, Inc. of Costa Mesa.

Davis Community Center and Apartments, Chapman College, Orange, California

Davis Community Center and Apartments opened September, 1974 at 625 North Grand Street, Orange, California, named in honor of Chapman College's fourth president, Dr. John L. Davis. The five two-story apartment buildings were designed by Harold Gimeno & Associates of Santa Ana and built by the J. Ray Construction Company, Inc. of Costa Mesa.

Davis Community Center and Apartments, Chapman College, Orange, California

Davis Community Center and Apartments opened September, 1974, at 625 North Grand Street, Orange, California, named in honor of Chapman College's fourth president, Dr. John L. Davis. The five two-story apartment buildings were designed by Harold Gimeno & Associates of Santa Ana and built by the J. Ray Construction Company, Inc. of Costa Mesa.