exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels

Genomics - Tập 103 - Trang 169-176 - 2014
B. Maranhao1,2, P. Biswas1, J.L. Duncan3, K.E. Branham4, G.A. Silva1,2,5, M.A. Naeem6, S.N. Khan6, S. Riazuddin6, J.F. Hejtmancik7, J.R. Heckenlively4, S.A. Riazuddin6,8, P.L. Lee1, R. Ayyagari1
1Department of Ophthalmology, University of California, San Diego, UC Jacobs Retina Center, 9415 Campus Point Drive, La Jolla, CA 92037-0946, USA
2Department of Bioengineering, University of California, San Diego, 9500 Gilman Drive, La Jolla, CA 92093 USA
3Department of Ophthalmology, University of California, San Francisco, San Francisco, CA 94143, USA
4Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, MI 48109, USA
5Neurosciences Graduate Program, University of California, San Diego, 9500 Gilman Drive, La Jolla, CA 92093, USA
6National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan
7Ophthalmic Genetics and Visual Function Branch, National Institutes of Health, Bethesda, MD 20892, USA
8The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA

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