Entering edit mode
14.2 years ago
Pierre Lindenbaum
164k
Does Polyphen2/batch ( http://genetics.bwh.harvard.edu/pph2/bgi.shtml ) skip the nonsense mutations ?
I tested it with (hg18) chr22:40053278 C/G the file pph2-snps.txt contained the nonsense mutation but the file pph2-full.txt was empty.
Am I wrong ?
I think the Polyphen only considers the missense mutation in their prediction pipeline. In the dbSNP id based interface [http://genetics.bwh.harvard.edu/pph2/dbsearch.shtml ] - no results are provided for other class of SNPs.