Volume 16 Issue 7, July 2014

News Briefs

In silico tools for splicing defect prediction: a survey from the viewpoint of end users

• Xueqiu Jian
• Eric Boerwinkle
• Xiaoming Liu

Mining the human genome after Association for Molecular Pathology v. Myriad Genetics

• Barbara J Evans

Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory

• Samuel P. Strom
• Hane Lee
• Joshua L. Deignan

The Angelina effect: immediate reach, grasp, and impact of going public

• Dina L.G. Borzekowski
• Yue Guan
• Debra L. Roter

Angelina Jolie’s faulty gene: newspaper coverage of a celebrity’s preventive bilateral mastectomy in Canada, the United States, and the United Kingdom

• Kalina Kamenova
• Amir Reshef
• Timothy Caulfield

Large numbers of individuals are required to classify and define risk for rare variants in known cancer risk genes

• Brian H. Shirts
• Angela Jacobson
• Brian L. Browning

Horizon scanning for translational genomic research beyond bench to bedside

• Mindy Clyne
• Sheri D. Schully
• Muin J. Khoury

Cystic fibrosis carrier screening in a North American population

• Val V. Zvereff
• Hawazin Faruki
• Kenneth J. Friedman

Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children’s Hospital Gene Partnership Informed Cohort Oversight Board

• Ingrid A. Holm
• Sarah K. Savage
• Patrick Taylor

Prostate cancer incidence in males with Lynch syndrome

• Sigurdis Haraldsdottir
• Heather Hampel
• Richard M. Goldberg

Predictive genetic testing experience for myocilin primary open-angle glaucoma using the Australian and New Zealand Registry of Advanced Glaucoma

• Emmanuelle Souzeau
• Jodi Glading
• Jamie E. Craig

Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia

• Wei Gu
• Winston Koh
• Stephen R. Quake

Correction: Corrigendum: Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway