Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease
临床基因组测序中的拷贝数变异:罕见病和未确诊疾病的应用与解读
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-018-0295-y
Gross, Andrew M; Ajay, Subramanian S; Rajan, Vani; Brown, Carolyn; Bluske, Krista; Burns, Nicole J; Chawla, Aditi; Coffey, Alison J; Malhotra, Alka; Scocchia, Alicia; Thorpe, Erin; Dzidic, Natasa; Hovanes, Karine; Sahoo, Trilochan; Dolzhenko, Egor; Lajoie, Bryan; Khouzam, Amirah; Chowdhury, Shimul; Belmont, John; Roller, Eric; Ivakhno, Sergii; Tanner, Stephen; McEachern, Julia; Hambuch, Tina; Eberle, Michael; Hagelstrom, R Tanner; Bentley, David R; Perry, Denise L; Taft, Ryan J