View the Detailed Mosaic Information from PubMed ID: 28503910
Gene ID | Gene Symbol | Chr | Position |
---|---|---|---|
10594 | PRPF8 | 17 | 1582562 |
Ref | Alt | Genotype | Validated Method |
G | A | mosaic | PASM |
SSC ID | WES Depth | WES Alt Count | PASM Depth |
13999.p1 | 85 | 8 | 18273 |
PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
0.1882222 | 0.1825883 | 0.1939409 | intronic |
Notes:
*iFish(Wang M, Wei L, PIMD: 27527004) is a supporting vector machine (SVM) based classifier which uses gene and gene family specific attributes. At the same time, iFish alsoprovides functional annotations from other classifiers such as: SIFT, Polyphen2, and MutationTaster2.
iFish utilized customized prediction cutoff for each classifier that maximizes the sum of sensitivity andspecificity.