Interview: Personal account of the discovery of a new disease using next-generation sequencing


ISSN 1462-2416 10.2217/PGS.11.117 © 2011 Future Medicine Ltd 1519 Pharmacogenomics (2011) 12(11), 1519–1523 „ „ Can„you„describe„your„ recent„work? This is a personal account of the recent discovery of a new disease that had not been previously described (at least to my knowledge) [1]. There were many colleagues involved in this work, so this is simply one version of the discovery, as seen through my eyes. This project was quite multidisciplinary, drawing upon the expertise of clinical geneticists (Alan Rope, John Carey, John Opitz, Lynne Bird, Cathy Stevens and Sarah South), pathologists (Theodore Pysher and Steven Chin), bioinformaticians (Kai Wang, Evan Johnson, Chad Huff, Barry Moore, Jinchuan Xing and Mark Yandell) and biologists (Rune Evjenth, Johan Lillehaug and Thomas Arnesen), just to mention a few of the contributions. My colleagues at the University of Utah (UT, USA) and Omicia, Inc. (CA, USA), a privately held company developing tools to interpret personal genome sequences, announced in Genome Research on 23 June 2011 a new software tool called variant annotation, analysis and search tool (VAAST), a probabilistic disease-causing mutation finder for individual human genomes [2]. A data interpretation bottleneck has limited the utility of personal genome information for medical diagnosis and preventive care. VAAST is a new algorithm to assist in overcoming this bottleneck. VAAST is the product of a collaboration between Mark Yandell, PhD, associate professor of human genetics at the University of Utah School of Medicine, and colleagues, and the Omicia scientific team under the leadership of Martin Reese, PhD, the company’s CEO and Chief Scientific Officer. In their paper, Yandell and colleagues demonstrate that VAAST provides a highly accurate, statistically robust means of rapidly searching personal genomes for genes with diseasecausing mutations. The authors demonstrate that as few as three genomes from unrelated children, or those of the parents Interview


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