ABCMdb

PMID: 22573477

Masica DL, Sosnay PR, Cutting GR, Karchin R
Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis.
Hum Mutat. 2012 Aug;33(8):1267-74. doi: 10.1002/humu.22110. Epub 2012 May 22., [PubMed]

Sentences

No. Mutations Sentence Comment

153 ABCC7 p.Thr338Ile ABCC7 p.Gly85Val ABCC7 p.Arg933Gly ABCC7 p.Gly550Arg Of the 103 test-set mutations, two CF-neutral mutations had a score higher than one standard deviation above the mean (G550R and R933G), and two CF-causing mutations had scores lower than one standard deviation below the mean (G85V and T338I); these four mutations were consistently the most difficult to accurately rank with our method. Login to comment