Annotation sources and scores
This section provides more detail about select annotation sources.
P-value scores
The P-value represents the probability that the variant call is incorrect. The range is from 0.00001 to 0.99999, with numbers approaching 1 being the least confident (that the call is incorrect), and numbers close to zero being the most confident (that the call is incorrect).
P-values closer to 0.0 represent more confidence that the variant call is correct. P-values closer to 1.0 represent less confidence that the variant call is correct.
The p-value reported by Ion Reporter™ Software is a logarithmic transformation of the Phred quality score value made by the VariantCaller. For example, a VariantCaller quality score of 20 is associated with a p-value of 0.01. A VariantCaller quality score of 30 is associated with a p-value is 0.001.
Pfam annotations
Ion Reporter™ Software has multiple Pfam versions. For more information on Pfam, see https://www.ebi.ac.uk/interpro/.
Pfam consist of parts A and B. Ion Reporter™ Software uses Pfam-A. "A is curated and contains well-characterized protein domain families with high quality alignments, which are maintained by using manually checked seed alignments and HMMs to find and align all members", according to this site:
Pfam: a comprehensive database of protein domain families based on seed alignments
See also the following link for information about Pfam:
The Pfam protein families database:: R.D. Finn, J. Mistry, J. Tate, P. Coggill, A. Heger, J.E. Pollington, O.L. Gavin, P. Gunesekaran, G. Ceric, K. Forslund, L. Holm, E.L. Sonnhammer, S.R. Eddy, A. Bateman. Nucleic Acids Research (2010) Database Issue 38:D211-222
Note: Pfam annotations for all domains of the gene's protein are added for any variant.
IMPORTANT! The interpretations listed here are the recommendations from the referenced web sites.
