Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing
Background: As exome sequencing (ES) integrates into clinical practice, we should make every effort to utilize all information generated. Copy-number variation can lead to Mendelian disorders, but small copy-number variants (CNVs) often get overlooked or obscured by under-powered data collection. Ma...
Main Authors: | Berg, J.S (Author), Bizon, C. (Author), Bost, D.M (Author), Brandt, A.T (Author), Filer, D.L (Author), Jeffries, C.D (Author), Kuo, F. (Author), Li, Y. (Author), Mieczkowski, P.A (Author), Powell, B.C (Author), Robasky, K. (Author), Tilley, C.R (Author), Tilson, J.L (Author), Wilhelmsen, K.C (Author) |
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Format: | Article |
Language: | English |
Published: |
BioMed Central Ltd
2021
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Subjects: | |
Online Access: | View Fulltext in Publisher |
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