Somatic variant using Ionreporter
0
0
Entering edit mode
9.3 years ago

I am doing tumour-normal Ampliseq comprehensive cancer panel analysis on Ionreporter. I am looking for deleterious somatic mutations. For this purpose, I have designed following filter in Ionreporter-

(Variant Type in INDEL, LONGDEL, SNV, MNV
Variant Effect in stoploss, nonsense, missense, frameshiftInsertion, frameshiftDeletion, frameshiftBlockSubstitution
0.0 <= PValue <= 0.05
10 <= Allele Read-Count <= 100000
0.0 <= SIFT <= 0.05 OR 0.95 <= PolyPhen <= 1.0)

Using this filter, I am getting 10 mutations in one tumor-normal pair, in other 3 pairs I am getting fewer mutations (2-3 only in each pair) because of lesser coverage and coverage uniformity in pairs. Mutant allele frequency (allele ratio) ranges from 0.03 to 0.44

Please suggest me how I can find mutations with confidence? And how may I have an idea about sample purity?

Thanks in advance

somatic ion-reporter ion-proton • 2.6k views
ADD COMMENT
0
Entering edit mode

Do you also have copy number data ?

ADD REPLY
0
Entering edit mode

Yes, I have. But I think copy number data by Ion Torrent platforms is not trustworthy. So I am focusing on SNVs only.

ADD REPLY

Login before adding your answer.

Traffic: 2705 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6