@article{909c8a7a3aeb41d38df99c7d0ad2f256,
title = "Better prediction of functional effects for sequence variants",
abstract = "Definitions used: Delta, input feature that results from computing the difference feature scores for native amino acid and feature scores for variant amino acid; nsSNP, non-synoymous SNP; PMD, Protein Mutant Database; SNAP, Screening for non-acceptable polymorphisms; SNP, single nucleotide polymorphism; variant, any amino acid changing sequence variant.",
keywords = "From sequence, Functional effect prediction, Neural network, SNP effect, Variant effect",
author = "Maximilian Hecht and Yana Bromberg and Burkhard Rost",
note = "Funding Information: Thanks to Tim Karl, Guy Yachdav, and Laszlo Kajan (TUM) for invaluable help with hardware and software; to Marlena Drabik (TUM) for administrative support; to Peter Hoenigschmid (WZW) and Christian Schaefer (TUM) for helpful discussions; to Shaila C. Roessle (LRZ Munich), Veit Hoehn (TUM), Mark Ofman (TUM), Manfred Roos (TUM), Wiktor Jurkowski (Univ. Luxembourg) and Reinhard Schneider (Univ. Luxembourg) for extensive beta testing of SNAP2. Last, not least, thanks to all those who deposit their experimental data in public databases, and to those who maintain these databases. This work and its publication was supported by a grant from the Alexander von Humboldt foundation through the German Ministry for Research and Education (BMBF: Bundesministerium fuer Bildung und Forschung). This work was also supported by the German Research Foundation (DFG) and the Technische Universit{\"a}t M{\"u}nchen within the funding programme Open Access Publishing. This article has been published as part of BMC Genomics Volume 16 Supplement 8, 2015: VarI-SIG 2014: Identification and annotation of genetic variants in the context of structure, function and disease. The full contents of the supplement are available online at http://www.biomedcentral.com/ bmcgenomics/supplements/16/S8. Publisher Copyright: {\textcopyright} 2015 Hecht et al.; licensee BioMed Central Ltd.",
year = "2015",
month = jun,
day = "18",
doi = "10.1186/1471-2164-16-S8-S1",
language = "English (US)",
volume = "16",
journal = "BMC Genomics",
issn = "1471-2164",
publisher = "BioMed Central",
number = "8",
}