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Identified mutations summary.

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posted on 2014-04-24, 02:43 authored by Xiao Zhang, Xianglian Ge, Wei Shi, Ping Huang, Qingjie Min, Minghan Li, Xinping Yu, Yaming Wu, Guangyu Zhao, Yi Tong, Zi-Bing Jin, Jia Qu, Feng Gu
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D: Damaging; PD, Possibly damaging; T, Tolerated; DE,Deleterious; N/A, No Answer;

*Homo, Homozygous mutation; , SIFT (http://sift.jcvi.org/); PolyPhen (http://genetics.bwh.harvard.edu/pph2/).

PANTHER (http://www.pantherdb.org/tools/csnpScoreForm.jsp); 1000G (http://www.1000genomes.org/);

ESP6500 (http://evs.gs.washington.edu/EVS/); In-house, in-house exome database.

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    Computational biologyEvolutionary biologypopulation geneticsgeneticsHuman geneticsmutationmolecular biologyMolecular biology techniquesSequencing techniquesSequence analysisPopulation biologyClinical geneticsophthalmologyInherited eye disordersMacular disordersPediatric ophthalmologyRetinal disorderspediatricsmutations

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