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VariOtator, a Software Tool for Variation Annotation with the Variation Ontology.
Schaafsma GC, Vihinen M. Schaafsma GC, et al. Hum Mutat. 2016 Apr;37(4):344-9. doi: 10.1002/humu.22954. Epub 2016 Feb 4. Hum Mutat. 2016. PMID: 26773573
Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases.
Schaafsma GCP, Vihinen M. Schaafsma GCP, et al. Hum Mutat. 2017 Jul;38(7):839-848. doi: 10.1002/humu.23236. Epub 2017 May 30. Hum Mutat. 2017. PMID: 28444810
Human Variome Project Quality Assessment Criteria for Variation Databases.
Vihinen M, Hancock JM, Maglott DR, Landrum MJ, Schaafsma GC, Taschner P. Vihinen M, et al. Among authors: schaafsma gc. Hum Mutat. 2016 Jun;37(6):549-58. doi: 10.1002/humu.22976. Epub 2016 Mar 21. Hum Mutat. 2016. PMID: 26919176 Free PMC article.
VariSNP, a benchmark database for variations from dbSNP.
Schaafsma GC, Vihinen M. Schaafsma GC, et al. Hum Mutat. 2015 Feb;36(2):161-6. doi: 10.1002/humu.22727. Epub 2015 Jan 8. Hum Mutat. 2015. PMID: 25385275
LOVD v.2.0: the next generation in gene variant databases.
Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT. Fokkema IF, et al. Among authors: schaafsma gc. Hum Mutat. 2011 May;32(5):557-63. doi: 10.1002/humu.21438. Epub 2011 Feb 22. Hum Mutat. 2011. PMID: 21520333
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
Bower M, Salomon R, Allanson J, Antignac C, Benedicenti F, Benetti E, Binenbaum G, Jensen UB, Cochat P, DeCramer S, Dixon J, Drouin R, Falk MJ, Feret H, Gise R, Hunter A, Johnson K, Kumar R, Lavocat MP, Martin L, Morinière V, Mowat D, Murer L, Nguyen HT, Peretz-Amit G, Pierce E, Place E, Rodig N, Salerno A, Sastry S, Sato T, Sayer JA, Schaafsma GC, Shoemaker L, Stockton DW, Tan WH, Tenconi R, Vanhille P, Vats A, Wang X, Warman B, Weleber RG, White SM, Wilson-Brackett C, Zand DJ, Eccles M, Schimmenti LA, Heidet L. Bower M, et al. Among authors: schaafsma gc. Hum Mutat. 2012 Mar;33(3):457-66. doi: 10.1002/humu.22020. Epub 2012 Jan 31. Hum Mutat. 2012. PMID: 22213154
Representativeness of variation benchmark datasets.
Schaafsma GCP, Vihinen M. Schaafsma GCP, et al. BMC Bioinformatics. 2018 Nov 29;19(1):461. doi: 10.1186/s12859-018-2478-6. BMC Bioinformatics. 2018. PMID: 30497376 Free PMC article.
Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases.
Schaafsma GCP, Vihinen M. Schaafsma GCP, et al. Hum Mutat. 2017 Nov;38(11):1613. doi: 10.1002/humu.23316. Hum Mutat. 2017. PMID: 29024182 No abstract available.
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