Reanalysis of Clinical Exome Sequencing Data

2019292 citationsletterbronze Open Access

Authors

Pengfei Liu · Baylor College of Medicine

Linyan Meng · Baylor College of Medicine

Elizabeth A. Normand · Baylor College of Medicine

Fan Xia · Baylor College of Medicine

Xiaofei Song · Baylor College of Medicine

Andrew R. Ghazi · Baylor College of Medicine

Jill A. Rosenfeld ·

Abstract

Reanalysis of Clinical Exome Data and Diagnostic Yield As knowledge about genetic causes of disease improves, periodic reanalysis of clinical exome sequence could yield new genetic information. Thi...

Topics & Keywords

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Metabolism and Genetic Disorders

UN Sustainable Development Goals

Zero hunger

Publication Details

Published in: New England Journal of Medicine

Volume 380, Issue 25, pp. 2478-2480

DOI: 10.1056/nejmc1812033

Field-Weighted Citation Impact: 30.87