In case you find SNPdbe useful please cite:
Schaefer C, Meier A, Rost B, Bromberg Y (2012) SNPdbe: Constructing an nsSNP functional impacts database, Bioinformatics; 28(4):601-602
Underlying component databases:
- dbSNP: Sherry ST et al. (2001) dbSNP: the NCBI database of genetic variation, NAR; 29:308-311
- SwissProt: Bairoch A et al. (2005) The Universal Protein Resource (UniProt), NAR; 33:D154-159
- PMD: Kawabata T et al. (1999) The Protein Mutant Database, NAR; 27:355-356
- OMIM: Amberger J et al. (2009) McKusick's Online Mendelian Inheritance in man (OMIM), NAR; 37:D793-796
- 1000 Genomes: 1000 Genomes Project Consortium (2010) A map of human genome variation from population-scale sequencing, Nature; 467:1061-73
Methods for predicting the functional effect of point mutations:
- SNAP: Bromberg Y, Rost B (2007) SNAP: predict effect of non-synonymous polymorphisms on function, NAR; 35:3823-3835
- SIFT: Ng PC, Henikoff S (2001) Predicting deleterious amino acid substitutions, Genome Res; 11:863-874
Measures for evolutionary conservation:
- PSSM and PERC: Altschul SF et al. (1997) Gapped BLAST and PSI-BLAST: a new generation of protein database search programs, NAR; 25:3389-3402
- PSIC: Sunyaev SR et al. (1999) PSIC: profile extraction from sequence alignments with position-specific counts of independent observations, Protein Eng; 12:387-394