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Comment & Response
July 16, 2014

Interpreting Whole-Genome Sequencing

Author Affiliations
  • 1Clinical Genomics Center, UCLA School of Medicine, Los Angeles, California

Copyright 2014 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.

JAMA. 2014;312(3):296. doi:10.1001/jama.2014.6602

To the Editor We believe that the report of the yield and interpretability of clinical whole-genome sequencing by Dr Dewey and colleagues1 is unduly pessimistic about the present and future efficacy of this molecular genetic technology in clinical medicine. Their experience of low coverage of key disease genes, poor nucleotide-calling reproducibility, low diagnostic yield, and insurmountable interpretative challenges for unexpected variants is at odds with that of most centers offering clinical genomic sequencing,2 including our own.

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