A systematic approach to the reporting of medically relevant findings from whole genome sequencing

201494 citationsJournal Articlegold Open Access

Authors

Heather M. McLaughlin · Harvard University

Ozge Ceyhan‐Birsoy · Mass General Brigham

Kurt D. Christensen · Brigham and Women's Hospital

Isaac S. Kohane · Harvard University

Joel B. Krier · Brigham and Women's Hospital

William J. Lane · Harvard University

Denise Lautenbach ·

Abstract

Our experience highlights important considerations for the reporting of results of potential medical relevance and provides a framework for interpretation and reporting practices in clinical genome sequencing.

Topics & Keywords

Genomics and Rare Diseases Genetic factors in colorectal cancer Cancer Genomics and Diagnostics

UN Sustainable Development Goals

Partnerships for the goals

Publication Details

Published in: BMC Medical Genetics

Volume 15, Issue 1, pp. 134-134

DOI: 10.1186/s12881-014-0134-1

Field-Weighted Citation Impact: 9.57