Genetics in Medicine contents: Volume 17, Issue 10

TABLE OF CONTENTS Volume 17, Issue 10 (October 2015) In this issue Research Highlights Original Research Article Brief Report Corrigendum Podcast Facebook Twitter Subscribe Recommend to your library RSS ACMG Advertisement   COMPLETE SUCCESS BEGINS WITH NGS SAMPLE QC The new Agilent 4200 TapeStation system is a complete solution for true end-to-end sample QC within any NGS workflow covering the full DNA and RNA sizing range. • Walk-away operation with fully automated sample process • Flexible sampling from 1 to 96 samples • Ready-to-use ScreenTape  See the instrument at ASHG 2015, booth 701 Research Highlights Top In this Issue Genet Med 2015 17: 763; 10.1038/gim.2015.130 Full Text News Briefs Genet Med 2015 17: 763-764; 10.1038/gim.2015.145 Full Text Original Research Articles Top Economic evaluation of genetic screening for Lynch syndrome in Germany Franziska Severin, Björn Stollenwerk, Elke Holinski-Feder, Elisabeth Meyer, Volker Heinemann, Clemens Giessen-Jung and Wolf Rogowski Genet Med 2015 17: 765-773; advance online publication, January 8, 2015; 10.1038/gim.2014.190 Abstract | Full Text Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios OPEN Xiaolin Zhu, Slavé Petrovski, Pingxing Xie, Elizabeth K. Ruzzo, Yi-Fan Lu, K. Melodi McSweeney, Bruria Ben-Zeev, Andreea Nissenkorn, Yair Anikster, Danit Oz-Levi, Ryan S. Dhindsa, Yuki Hitomi, Kelly Schoch, Rebecca C. Spillmann, Gali Heimer, Dina Marek-Yagel, Michal Tzadok, Yujun Han, Gordon Worley, Jennifer Goldstein, Yong-Hui Jiang, Doron Lancet, Elon Pras, Vandana Shashi, Duncan McHale, Anna C. Need and David B. Goldstein Genet Med 2015 17: 774-781; advance online publication, January 15, 2015; 10.1038/gim.2014.191 Abstract | Full Text Assessment of incidental findings in 232 whole-exome sequences from the Baylor–Hopkins Center for Mendelian Genomics Julie Jurgens, Hua Ling, Kurt Hetrick, Elizabeth Pugh, Francois Schiettecatte, Kimberly Doheny, Ada Hamosh, Dimitri Avramopoulos, David Valle and Nara Sobreira Genet Med 2015 17: 782-788; advance online publication, January 8, 2015; 10.1038/gim.2014.196 Abstract | Full Text Implications of polygenic risk-stratified screening for prostate cancer on overdiagnosis OPEN Nora Pashayan, Stephen W. Duffy, David E. Neal, Freddie C. Hamdy, Jenny L. Donovan, Richard M. Martin, Patricia Harrington, Sara Benlloch, Ali Amin Al Olama, Mitul Shah, Zsofia Kote-Jarai, Douglas F. Easton, Rosalind Eeles and Paul D. Pharoah for the UKGPCS Collaborators and for the PRACTICAL Consortium Genet Med 2015 17: 789-795; advance online publication, January 8, 2015; 10.1038/gim.2014.192 Abstract | Full Text Small-scale high-throughput sequencing–based identification of new therapeutic tools in cystic fibrosis Jennifer Bonini, Jessica Varilh, Caroline Raynal, Corinne Thèze, Emmanuelle Beyne, Marie-Pierre Audrezet, Claude Ferec, Thierry Bienvenu, Emmanuelle Girodon, Sylvie Tuffery-Giraud, Marie Des Georges, Mireille Claustres and Magali Taulan-Cadars Genet Med 2015 17: 796-806; advance online publication, January 8, 2015; 10.1038/gim.2014.194 Abstract | Full Text An effective strategy to prevent allopurinol-induced hypersensitivity by HLA typing Jae-Woo Jung, Dong-Ki Kim, Heung-Woo Park, Kook-Hwan Oh, Kwon-Wook Joo, Yon-Su Kim, Curie Ahn, Kyung Wha Lee, Sang-Heon Cho, Kyung-Up Min and Hye-Ryun Kang Genet Med 2015 17: 807-814; advance online publication, January 29, 2015; 10.1038/gim.2014.195 Abstract | Full Text Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing Jennifer A. Inra, Ewout W. Steyerberg, Shilpa Grover, Ashley McFarland, Sapna Syngal and Fay Kastrinos Genet Med 2015 17: 815-821; advance online publication, January 15, 2015; 10.1038/gim.2014.199 Abstract | Full Text Acceptability and feasibility of a virtual counselor (VICKY) to collect family health histories Catharine Wang, Timothy Bickmore, Deborah J. Bowen, Tricia Norkunas, MaryAnn Campion, Howard Cabral, Michael Winter and Michael Paasche-Orlow Genet Med 2015 17: 822-830; advance online publication, January 15, 2015; 10.1038/gim.2014.198 Abstract | Full Text Brief Report Top Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing Deborah I. Ritter, Katherine Haines, Hannah Cheung, Caleb F. Davis, Ching C. Lau, Jonathan S. Berg, Chester W. Brown, Patrick A. Thompson, Richard Gibbs, David A. Wheeler and Sharon E. Plon Genet Med 2015 17: 831-835; advance online publication, January 8, 2015; 10.1038/gim.2014.189 Abstract | Full Text Maternal cell-free DNA–based screening for fetal microdeletion and the importance of careful diagnostic follow-up Svetlana A. Yatsenko, David G. Peters, Devereux N. Saller, Tianjiao Chu, Michelle Clemens and Aleksandar Rajkovic Genet Med 2015 17: 836-838; advance online publication, January 8, 2015; 10.1038/gim.2014.197 Abstract | Full Text Corrigendum Top CORRIGENDUM: Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population Genet Med 2015 17: 839; 10.1038/gim.2015.122 Full Text Podcast Top Listen to the latest podcast here. 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