Copy-number Variants in Clinical Genome Sequencing: Deployment and Interpretation for Rare and Undiagnosed Disease
Andrew M. Gross,Subramanian S. Ajay,Vani Rajan,Carolyn Brown,Krista Bluske,Nicole J. Burns,Aditi Chawla,Alison J. Coffey,Alka Malhotra,Alicia Scocchia,Erin Thorpe,Natasa Dzidic,Karine Hovanes,Trilochan Sahoo,Egor Dolzhenko,Bryan Lajoie,Amirah Khouzam,Shimul Chowdhury,John Belmont,Eric Roller,Sergii Ivakhno,Stephen Tanner,Julia McEachern,Tina Hambuch,Michael Eberle,R. Tanner Hagelstrom,David R. Bentley,Denise L. Perry,Ryan J. Taft Genetics in Medicine（2018）
关键词
whole genome sequencing (WGS),copy number variation (CNV),rare and undiagnosed disease,structural variation (SV),microarray
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