Open AccessWhole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia
Author(s) -
Christian R. Marshall,
Stephen W. Scherer,
Maimoona A. Zariwala,
Lynette Lau,
Tara Paton,
Tracy Stockley,
Rebekah Jobling,
Peter N. Ray,
Michael R. Knowles,
David A. Hall,
Sharon Dell,
Raymond H. Kim
Publication year - 2015
Publication title -
carolina digital repository (university of north carolina at chapel hill)
Language(s) - English
DOI - 10.17615/7vzp-r892
Subject(s) - primary ciliary dyskinesia , exome sequencing , copy number variation , copy number analysis , biology , genetics , cilium , dyskinesia , exome , medicine , computational biology , mutation , pathology , gene , genome , bronchiectasis , lung , disease , parkinson's disease
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