GenomeWeb Article: Genome In A Bottle Consortium Developing New Reference Materials, Variant Call Sets


Julia Karow

NEW YORK (GenomeWeb) – The Genome in a Bottle Consortium has been developing new reference materials for genome sequencing and is working on a first set of high-quality structural variants for human genomes. In the meantime, laboratories have begun to adopt its first pilot genome as a standard for developing new sequencing technologies and assays.

Last month, the private-public consortium, which is spearheaded by the National Institute of Standards and Technology, released four new DNA reference materials, adding to the pilot sample it made available last year. The consortium counts about 20 members on the sample development and an equal number on the data analysis sides, including clinical laboratories, sequencing technology companies, professional organizations, and research groups at academic institutions and government agencies. While the majority of these are US-based, the group also has members from Australia, Asia, and Europe.

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