title={An efficient algorithm for the extraction of HGVS variant descriptions from sequences.},
author={Vis, J.K. and Vermaat, M and Taschner, P.E.M. and Kok, J.N. and Laros, J.F.J.},
journal={Bioinformatics},
year={2015},
month={Jul}
}
@article{van_Leeuwen_2015,
keywords={consortium},
title={Population-specific genotype imputations using minimac or IMPUTE2},volume={10},ISSN={1750-2799},url={http://dx.doi.org/10.1038/nprot.2015.077},DOI={10.1038/nprot.2015.077},number={9},journal={Nature Protocols},publisher={Nature Publishing Group},author={van Leeuwen, Elisabeth M and Kanterakis, Alexandros and Deelen, Patrick and Kattenberg, Mathijs V and Abdellaoui, Abdel and Hofman, Albert and Schönhuth, Alexander and Kanterakis, Alexandros and Menelaou, Androniki and de Craen, Anton J M and et al.},year={2015},month={Jul},pages={1285–1296}}
@article{Kloosterman_2015,
keywords={consortium},
title={Characteristics of de novo structural changes in the human genome},volume={25},ISSN={1549-5469},url={http://dx.doi.org/10.1101/gr.185041.114},DOI={10.1101/gr.185041.114},number={6},journal={Genome Res.},publisher={Cold Spring Harbor Laboratory Press},author={Kloosterman, Wigard P. and Francioli, Laurent C. and Hormozdiari, Fereydoun and Marschall, Tobias and Hehir-Kwa, Jayne Y. and Abdellaoui, Abdel and Lameijer, Eric-Wubbo and Moed, Matthijs H. and Koval, Vyacheslav and Renkens, Ivo and et al.},year={2015},month={Apr},pages={792–801}}
@article{Yoshihara_2015,
keywords={consortium},
title={Discovery of Molecular Markers to Discriminate Corneal Endothelial Cells in the Human Body},volume={10},ISSN={1932-6203},url={http://dx.doi.org/10.1371/journal.pone.0117581},DOI={10.1371/journal.pone.0117581},number={3},journal={PLoS ONE},publisher={Public Library of Science (PLoS)},author={Yoshihara, Masahito and Ohmiya, Hiroko and Hara, Susumu and Kawasaki, Satoshi and Hayashizaki, Yoshihide and Itoh, Masayoshi and Kawaji, Hideya and Tsujikawa, Motokazu and Nishida, Kohji},editor={Kerkis, IrinaEditor},year={2015},month={Mar},pages={e0117581}}
@article{Pulyakhina_2015,
keywords={jlaros},
title={SplicePie: a novel analytical approach for the detection of alternative, non-sequential and recursive splicing},volume={43},ISSN={1362-4962},url={http://dx.doi.org/10.1093/nar/gkv242},DOI={10.1093/nar/gkv242},number={12},journal={Nucleic Acids Research},publisher={Oxford University Press (OUP)},author={Pulyakhina, Irina and Gazzoli, Isabella and ’t Hoen, Peter A.C. and Verwey, Nisha and den Dunnen, Johan and Aartsma-Rus, Annemieke and Laros, Jeroen F.J.},year={2015},month={Mar},pages={e80–e80}}
@article{van_Leeuwen_2015,
keywords={consortium},
title={Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels},volume={6},ISSN={2041-1723},url={http://dx.doi.org/10.1038/ncomms7065},DOI={10.1038/ncomms7065},journal={Nat Comms},publisher={Nature Publishing Group},author={van Leeuwen, Elisabeth M. and Karssen, Lennart C. and Deelen, Joris and Isaacs, Aaron and Medina-Gomez, Carolina and Mbarek, Hamdi and Kanterakis, Alexandros and Trompet, Stella and Postmus, Iris and Verweij, Niek and et al.},year={2015},month={Mar},pages={6065}}
@misc{backtranslate,
keywords={software},
title={BackTranslate: Functions for reverse translation.},
author={J.F.J. Laros},
url={https://pypi.python.org/pypi/backtranslate},
year={2015}
}
@misc{barcode,
keywords={software},
title={barcode: Design NGS barcodes.},
author={Laros, J.F.J.},
url={https://pypi.python.org/pypi/barcode},
year={2013}
}
@misc{binparser,
keywords={software},
title={BinParser: General binary file parser.},
author={Laros, J.F.J.},
url={https://pypi.python.org/pypi/bin-parser},
year={2015}
}
@misc{famparser,
keywords={software},
title={FamParser: FAM file parser.},
author={Laros, J.F.J.},
url={https://pypi.python.org/pypi/fam-parser},
year={2015}
}
@misc{fastools,
keywords={software},
title={Fastools: FASTA/FASTQ analysis and manipulation toolkit.},
author={Laros, J.F.J.},
url={https://pypi.python.org/pypi/fastools},
year={2014}
}
@misc{kpal,
keywords={software},
title={kPal: k-mer analysis toolkit and programming library.},
author={Vermaat, M. and Laros, J.F.J.},
url={https://pypi.python.org/pypi/kPAL},
year={2014}
}
@misc{memoise,
keywords={software},
title={Memoise decorator.},
author={Laros, J.F.J.},
url={https://pypi.python.org/pypi/memoise},
year={2013}
}
@misc{onlinearray,
keywords={software},
title={An array-like object that calls a function.},
author={Laros, J.F.J.},
url={https://pypi.python.org/pypi/online-array},
year={2014}
}
@misc{piletools,
keywords={software},
title={Piletools: Mpileup analysis toolkit.},
author={Laros, J.F.J.},
url={https://pypi.python.org/pypi/piletools},
year={2015}
}
@misc{simreads,
keywords={software},
title={Generate simulated reads.},
author={Laros, J.F.J.},
url={https://pypi.python.org/pypi/sim-reads},
year={2015}
}
@misc{tracwiki,
keywords={software},
title={TracWiki: Checkout and commit trac wiki pages.},
author={Laros, J.F.J.},
url={https://pypi.python.org/pypi/tracwiki},
year={2012}
}
@misc{tssv,
keywords={software},
title={TSSV: Targeted characterisation of short structural variation.},
author={Laros, J.F.J.},
url={https://pypi.python.org/pypi/tssv},
year={2014}
}
@misc{mutalyzer,
keywords={software},
title={Mutalyzer: Sequence variant nomenclature checking according to the
guidelines of the Human Genome Variation Society.},
author={Vermaat, M. and Vis, J.K. and Schaafsma, G.C.P. and Stouten, G.R. and Laros, J.F.J.},
url={},
year={2015}
}
@misc{extractor,
keywords={software},
title={HGVS variant description extractor.},
author={Vis, J.K. and Vermaat, M. and Laros, J.F.J.},
