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The CMH Warehouse: A Catalog of Genetic Variation in Patients of a Children's Hospital

Published: 02 October 2016 Publication History

Abstract

Advances in high-throughput DNA sequencing have enabled the comprehensive identification of individual genetic variation on an unprecedented scale, powering the diagnosis of disease and personalized treatment. As our ability to detect genetic variation has grown, clinicians and researchers struggle to interpret the functional significance of the millions of variants found in each individual genome. The Variant Warehouse at the Center for Pediatric Genomic Medicine (CPGM) at Children's Mercy, Kansas City, is a resource containing a record of over 150 million genomic variants detected in more than 5700 patients sequenced by the Center since 2011. Each variant has been characterized by the CPGM's Rapid Understanding of Nucleotide Effect Software (RUNES) pipeline, which records database cross references and predicted functional consequences as generated by multiple in silico tools. Additionally, a local minor allele frequency is calculated for each variant every 6 hours enabling clinicians and researchers to rapidly identify rare disease causing mutations in patients. The CMH Variant Warehouse website is publicly accessible and has implemented the Beacon API developed by Global Alliance for Genomics and Health for data sharing.

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cover image ACM Conferences
BCB '16: Proceedings of the 7th ACM International Conference on Bioinformatics, Computational Biology, and Health Informatics
October 2016
675 pages
ISBN:9781450342254
DOI:10.1145/2975167
Permission to make digital or hard copies of part or all of this work for personal or classroom use is granted without fee provided that copies are not made or distributed for profit or commercial advantage and that copies bear this notice and the full citation on the first page. Copyrights for third-party components of this work must be honored. For all other uses, contact the Owner/Author.

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Association for Computing Machinery

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Publication History

Published: 02 October 2016

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Author Tags

  1. Beacon API
  2. DNA sequencing
  3. Data warehouse
  4. Genetic variation
  5. Health informatics

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BCB '16
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Overall Acceptance Rate 254 of 885 submissions, 29%

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