PMC:4596894 / 26027-27925 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4596894","sourcedb":"PMC","sourceid":"4596894","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4596894","text":"Web Resources\nThe URLs for data presented herein are as follows:1000 Genomes, http://www.1000genomes.org/\nANNOVAR, http://www.openbioinformatics.org/annovar/\ndbSNP, http://www.ncbi.nlm.nih.gov/SNP/\nExome Aggregation Consortium (ExAC) Browser, http://exac.broadinstitute.org\nNCBI Map Viewer, http://www.ncbi.nlm.nih.gov/mapview/\nNHLBI Exome Sequencing Project (ESP) Exome Variant Server, http://evs.gs.washington.edu/EVS/\nOMIM, http://www.omim.org/\nUCSC Genome Browser, https://genome.ucsc.edu/index.html\nVariantDB, http://www.biomina.be/app/variantdb\n\nSupplemental Data\nDocument S1. Figures S1–S4\nDocument S2. Article plus Supplemental Data\n\nAcknowledgments\nWe thank the families for their participation in this study. We acknowledge Dr. Nawfal Fejjal for his participation in the clinical investigations of the Moroccan family. This study was supported by funding from the Belgian Science Policy Office Interuniversity Attraction Poles (BELSPO-IAP) program (project IAP P7/43-BeMGI to G.V.C.) and funding from the Marie Curie Initial Training Networks action (FP7-2012-PERFUME-316723 to K.D.F. and H.R.W.). We acknowledge support from the Manchester Biomedical Research Centre. This study was supported by funding from the Wellcome Trust (grant no. 093113 to C.F.I. and A.J.M.). C.F.I., G.C.B., and J.A.P. are members of the UK Inherited Retinal Disease Consortium, supported by RP Fighting Blindness and Fight For Sight (RP Genome Project GR586). The authors would like to thank the Exome Aggregation Consortium and the groups that provided exome variant data for comparison. A full list of contributing groups can be found at http://exac.broadinstitute.org/about. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).\nSupplemental Data include four figures and can be found with this article online at http://dx.doi.org/10.1016/j.ajhg.2015.08.011.","divisions":[{"label":"sec","span":{"begin":0,"end":550}},{"label":"title","span":{"begin":0,"end":13}},{"label":"p","span":{"begin":14,"end":550}},{"label":"p","span":{"begin":64,"end":105}},{"label":"p","span":{"begin":106,"end":157}},{"label":"p","span":{"begin":158,"end":197}},{"label":"p","span":{"begin":198,"end":273}},{"label":"p","span":{"begin":274,"end":327}},{"label":"p","span":{"begin":328,"end":420}},{"label":"p","span":{"begin":421,"end":447}},{"label":"p","span":{"begin":448,"end":503}},{"label":"p","span":{"begin":504,"end":550}},{"label":"sec","span":{"begin":552,"end":640}},{"label":"title","span":{"begin":552,"end":569}},{"label":"p","span":{"begin":570,"end":640}},{"label":"caption","span":{"begin":570,"end":596}},{"label":"title","span":{"begin":570,"end":596}},{"label":"caption","span":{"begin":597,"end":640}},{"label":"title","span":{"begin":597,"end":640}},{"label":"ack","span":{"begin":642,"end":1666}},{"label":"title","span":{"begin":642,"end":657}},{"label":"p","span":{"begin":658,"end":1666}},{"label":"footnote","span":{"begin":1667,"end":1768}},{"label":"p","span":{"begin":1667,"end":1768}}],"tracks":[]}