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Published in 2019 at "Frontiers in Pharmacology"
DOI: 10.3389/fphar.2018.01529
Abstract: Objective: Whole Exome Sequencing (WES) is an effective diagnostic method for complicated and multi-system involved rare diseases. However, annotation and analysis of the WES result, especially for single case analysis still remain a challenge. Here,…
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Keywords:
wes data;
phenotype driven;
method;
virtual panel ... See more keywords