Article
Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges.
Human mutation - 1 Sept 2017
Cai Binghuang, Li Biao, Kiga Nikki, Thusberg Janita, Bergquist Timothy, Chen Yun-Ching, Niknafs Noushin, Carter Hannah, Tokheim Collin, Beleva-Guthrie Violeta, Douville Christopher, Bhattacharya Rohit, Yeo Hui Ting Grace, Fan Jean, Sengupta Sohini, Kim Dewey, Cline Melissa, Turner Tychele, Diekhans Mark, Zaucha Jan, Pal Lipika R, Cao Chen, Yu Chen-Hsin, Yin Yizhou, Carraro Marco, Giollo Manuel, Ferrari Carlo, Leonardi Emanuela, Tosatto Silvio C E, Bobe Jason, Ball Madeleine, Hoskins Roger A, Repo Susanna, Church George, Brenner Steven E, Moult John, Gough Julian, Stanke Mario, Karchin Rachel, Mooney Sean D
Abstract excerpt
The advent of next-generation sequencing has dramatically decreased the cost for whole-genome sequencing and increased the viability for its application in research and clinical care. The Personal Genome Project (PGP) provides unrestricted access to genomes of individuals and their associated phenotypes. This resource enabled the Critical Assessment of Genome Interpretation (CAGI) to create a community challenge...
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