View the Detailed Mosaic Information from PubMed ID: 28503910
Gene ID | Gene Symbol | Chr | Position |
---|---|---|---|
114780 | PKD1L2 | 16 | 81134671 |
Ref | Alt | Genotype | Validated Method |
G | A | mosaic | PASM |
SSC ID | WES Depth | WES Alt Count | PASM Depth |
12994.p1 | 59 | 6 | 3563 |
PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
0.103 | 0.093 | 0.114 | UTR3 |
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.