# HG changeset patch # User saketkc # Date 1397512233 14400 # Node ID f8f4ad14f5a6719c8c99ff3785f39ccc4260ce6e # Parent 1cbb0f884e7c92c04ae3ccfead527a3ed22a81a9 Uploaded diff -r 1cbb0f884e7c -r f8f4ad14f5a6 polyphen2_web/polyphen2_web.xml --- a/polyphen2_web/polyphen2_web.xml Mon Apr 14 17:30:34 2014 -0400 +++ b/polyphen2_web/polyphen2_web.xml Mon Apr 14 17:50:33 2014 -0400 @@ -65,16 +65,52 @@ .. class:: infomark - * HumDiv model uses 5% / 10% FPR thresholds for “probably damaging” / “possibly damaging” predictions + *Classifier model* used by the probabilistic predictor: + + -HumDiv is preferred for evaluating rare alleles, dense mapping of regions identified by genome-wide association studies, + and analysis of natural selection. HumDiv model uses 5% / 10% FPR thresholds for “probably damaging” / “possibly damaging” predictions + + + -HumVar is better suited for diagnostics of Mendelian diseases which requires distinguishing mutations with drastic effects + from all the remaining human variation, including abundant mildly deleterious alleles. + HumVar model uses 10% / 20% FPR thresholds for “probably damaging” / “possibly damaging” predictions .. class:: infomark - * HumVar model uses 10% / 20% FPR thresholds for “probably damaging” / “possibly damaging” predictions + *Transcripts* A set of Transcripts on which genomic SNPs will be mapped: + + + -*All* includes all UCSC knownGene transcripts (highly redundant) + + -*Canonical* includes UCSC knownCanonical subset + + -*CCDS* further restricts knownCanonical subset to those transcripts which are also annotated as part of NCBI CCDS. + + + .. class:: infomark + + *Annotations* for the following functional categories of genomic SNPs will be included in the output: + + + -*All*: coding-synon, introns, nonsense missense utr-3, utr-5. + + + -*Coding*: coding-synon, nonsense. missense + + + -*Missense*: missense. + + + + .. class:: warningmark + + Note that PolyPhen-2 predictions are always produced for missense + .. class:: infomark - '''Input format''': + Input format: chr22:30421786 A/T @@ -86,6 +122,7 @@ chr22:40815256 C/T + **Citations** If you use this tool please cite: