Variability in pathogenicity prediction programs: impact on clinical diagnostics

por Walters-Sen, Lauren C, Hashimoto, Sayaka, Thrush, Devon Lamb, Reshmi, Shalini, Gastier-Foster, Julie M, Astbury, Caroline, Pyatt, Robert E
Publicado 2015

Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets

por Cherukuri, Praveen F., Soe, Melissa M., Condon, David E., Bartaria, Shubhi, Meis, Kaitlynn, Gu, Shaopeng, Frost, Frederick G., Fricke, Lindsay M., Lubieniecki, Krzysztof P., Lubieniecka, Joanna M., Pyatt, Robert E., Hajek, Catherine, Boerkoel, Cornelius F., Carmichael, Lynn
Publicado 2022