Genome-wide significance testing of variation from single case exomes
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/ng.3697.pdf
Reference28 articles.
1. Bamshad, M.J. et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat. Rev. Genet. 12, 745–755 (2011).
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3. Cooper, G.M. & Shendure, J. Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nat. Rev. Genet. 12, 628–640 (2011).
4. Lek, M. et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature 536, 285–291 (2016).
5. Mitchell, A.A., Chakravarti, A. & Cutler, D.J. On the probability that a novel variant is a disease-causing mutation. Genome Res. 15, 960–966 (2005).
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