Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis

2017113 citationsJournal Articlegold Open Access

Authors

Hayk Barseghyan · Children's National

W.H. Wilson Tang · University of California, Los Angeles

Richard T. Wang · University of California, Los Angeles

Miguel Almalvez · Children's National

Eva Segura · University of California, Los Angeles

Matthew S. Bramble · University of California, Los Angeles

Allen Lipson

Abstract

We showed the ability of NGM technology to detect pathogenic structural variants otherwise missed by PCR-based techniques or chromosomal microarrays. NGM is poised to become a new tool in the clinical genetic diagnostic strategy and research due to its ability to sensitively identify large genomic variations.

Topics & Keywords

RNA and protein synthesis mechanisms Genomics and Rare Diseases RNA modifications and cancer

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Genome Medicine

Volume 9, Issue 1, pp. 90-90

DOI: 10.1186/s13073-017-0479-0

Field-Weighted Citation Impact: 3.47