About

PolyPhen-2 is a new development of the PolyPhen tool for annotating coding nonsynonymous SNPs. Some of the highlights of the new version are:

  • High quality multiple sequence alignment pipeline
  • Probabilistic classifier based on machine-learning method
  • Optimized for high-throughput analysis of the next-generation sequencing data
Please cite:
  • Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. Nat Methods 7(4):248-249 (2010). PubMed PDF Supplemental Information
Other References:
  1. Adzhubei I, Jordan DM, Sunyaev SR. Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet, Chapter 7:Unit7.20 (2013). PubMed PDF
  2. Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 30(17):3894-3900 (2002). PubMed PDF
  3. Sunyaev SR, Eisenhaber F, Rodchenkov IV, Eisenhaber B, Tumanyan VG, Kuznetsov EN. PSIC: profile extraction from sequence alignments with position-specific counts of independent observations. Protein Eng 12(5):387-394 (1999). PubMed PDF
Last modified: 2013/08/13 02:49
   
 
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