Quantification of Phenotype Information Aids the Identification of Novel Disease genes.表型信息的量化艾滋病疾病基因的鉴定.pdfVIP

Quantification of phenotype information aids the identification of novel disease genes 1, 1, 2,3 1 Anneke T. Vulto-van Silfhout *, Christian Gilissen *, Jelle J. Goeman , Sandra Jansen , 1 1 1 Claudia J.M. van Amen-Hellebrekers , Bregje W.M. van Bon , David A. Koolen , Erik A. 4 1 1 1 Sistermans , Han G. Brunner , Arjan P.M. de Brouwer , Bert B.A. de Vries 1. Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands 2. Department for Health Evidence, Radboud university medical center, Nijmegen, The Netherlands 3. Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, The Netherlands 4. Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands * These authors contributed equally to this work This article has been accepted for publication and undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record. Please cite this article as doi: 10.1002/humu.23176. This article is protected by copyright. All rights reserved. Correspondence to: Anneke T. Vulto-van Silfhout Department of Human Genetics 836 Radboud university medical center P.O. Box 9101, 6500 HB Nijmegen, the Netherlands E-mail: anneke.vulto-vansilfhout@radboudumc.nl