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Paper Details

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease.
Genet Med
69
2019
CNV, CNVs, Copy-number variants, UPD, copy-number variant, genetic disorders, genomic pathogenic variant, microarrays, trisomy 14, uniparental disomy
Author NameAffiliation
Andrew M GrossIllumina Inc.
Alison J CoffeyIllumina Inc.
Bryan R LajoieIllumina Inc.
John W BelmontIllumina Inc.
Tina HambuchInvitae Corporation
Michael A EberleIllumina Inc.
Michael A EberleIllumina Inc.
David R BentleyIllumina Cambridge Ltd.
David R BentleyIllumina Cambridge Ltd.
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