diff --git a/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/Makefile b/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/Makefile new file mode 120000 index 0000000000000000000000000000000000000000..67bbf579c8e015b89a498cc73261f6956a6e1de8 --- /dev/null +++ b/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/Makefile @@ -0,0 +1 @@ +/local/projects/poster/trunk/Makefile \ No newline at end of file diff --git a/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/beamerthemelumc.sty b/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/beamerthemelumc.sty new file mode 120000 index 0000000000000000000000000000000000000000..c4ebe290a885f9cc0b1d4c6e921bcdff05864d9e --- /dev/null +++ b/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/beamerthemelumc.sty @@ -0,0 +1 @@ +/local/projects/poster/trunk/beamerthemelumc.sty \ No newline at end of file diff --git a/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/gen2phen_logo.eps b/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/gen2phen_logo.eps new file mode 120000 index 0000000000000000000000000000000000000000..c6bbd6d415aad4279a2970bef42f50c7e8def74b --- /dev/null +++ b/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/gen2phen_logo.eps @@ -0,0 +1 @@ +/local/projects/poster/trunk/gen2phen_logo.eps \ No newline at end of file diff --git a/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/lgtc_logo.eps b/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/lgtc_logo.eps new file mode 120000 index 0000000000000000000000000000000000000000..0aa852be38458a27f4cf58c47b4b3859b684bd3d --- /dev/null +++ b/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/lgtc_logo.eps @@ -0,0 +1 @@ +/local/projects/poster/trunk/lgtc_logo.eps \ No newline at end of file diff --git a/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/lumc_logo.eps b/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/lumc_logo.eps new file mode 120000 index 0000000000000000000000000000000000000000..218d986e99adaf98d688e482751bc059a7cd75f7 --- /dev/null +++ b/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/lumc_logo.eps @@ -0,0 +1 @@ +/local/projects/poster/trunk/lumc_logo.eps \ No newline at end of file diff --git a/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/mutalyzerNameCheck.eps b/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/mutalyzerNameCheck.eps new file mode 120000 index 0000000000000000000000000000000000000000..a140e29c0ae3187b6a0c2a6316dfefe6b4f5e4ca --- /dev/null +++ b/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/mutalyzerNameCheck.eps @@ -0,0 +1 @@ +/local/doc/presentationpics/mutalyzerNameCheck.eps \ No newline at end of file diff --git a/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/mutalyzerPositionConvert.eps b/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/mutalyzerPositionConvert.eps new file mode 120000 index 0000000000000000000000000000000000000000..7e29fca25502269b13ddd82ecfbd1514cb639f53 --- /dev/null +++ b/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/mutalyzerPositionConvert.eps @@ -0,0 +1 @@ +/local/doc/presentationpics/mutalyzerPositionConvert.eps \ No newline at end of file diff --git a/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/nbic_logo.eps b/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/nbic_logo.eps new file mode 120000 index 0000000000000000000000000000000000000000..47de9bc5831b3d67f476e694555bece4dc451fa0 --- /dev/null +++ b/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/nbic_logo.eps @@ -0,0 +1 @@ +/local/projects/poster/trunk/nbic_logo.eps \ No newline at end of file diff --git a/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/positionpicture.tex b/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/positionpicture.tex new file mode 100644 index 0000000000000000000000000000000000000000..d9d593c2a0345f8c4c75e07e10b3f6ddd6df9420 --- /dev/null +++ b/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/positionpicture.tex @@ -0,0 +1,38 @@ +\vspace{-0.5cm} +\begin{center} + \colorbox{white}{ + \begin{picture}(300, 60)(0, 0) + \put(0, 30){\line(1, 0){300}} % Genomic sequence. + \linethickness{4pt} + \put(50, 30){\line(1, 0){30}} % Non-coding parts of the exons. + \put(220, 30){\line(1, 0){10}} + \linethickness{12pt} + \put(80, 30){\line(1, 0){20}} % Coding parts of the exons. + \put(150, 30){\line(1, 0){20}} + \put(200, 30){\line(1, 0){20}} + + \linethickness{0.5pt} + \put(20, 50){\scriptsize{Transcription start}} + \put(50, 45){\vector(0, -1){10}} + \put(200, 50){\scriptsize{Transcription end}} + \put(230, 45){\vector(0, -1){10}} + + \put(70, 0){\scriptsize{CDS start}} + \put(80, 10){\vector(0, 1){10}} + \put(210, 0){\scriptsize{CDS stop}} + \put(220, 10){\vector(0, 1){10}} + + \put(0, 0){\scriptsize{Genomic end}} + \put(0, 10){\vector(0, 1){10}} + \put(270, 0){\scriptsize{Genomic start}} + \put(300, 10){\vector(0, 1){10}} + + \put(95, 50){\color{red}\scriptsize{Variant A}\color{black}} + \put(115, 45){\color{red}\vector(0, -1){10}\color{black}} + + \put(140, 50){\color{red}\scriptsize{Variant B}\color{black}} + \put(160, 45){\color{red}\vector(0, -1){10}\color{black}} + \end{picture} + } +\end{center} +\bigskip diff --git a/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/poster.bbl b/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/poster.bbl new file mode 100644 index 0000000000000000000000000000000000000000..6a122bbe4e652a08f23be6f40d864eb0665d4ded --- /dev/null +++ b/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/poster.bbl @@ -0,0 +1,17 @@ +\begin{thebibliography}{1} + +\bibitem{HGVS} +{Human Genome Variation Society}. +\newblock \begin{small}\texttt{http://www.hgvs.org/}\end{small}. + +\bibitem{LOVD} +I.~Fokkema, J.~{den}~Dunnen, and P.~Taschner, ``{LOVD}: easy creation of a + locus-specific sequence variation database using an ``{LSDB-in-a-Box}'' + approach.,'' {\em Human Mutation}, vol.~26, no.~2, pp.~63--68, 2005. + +\bibitem{LRG} +R.~e.~a. Dalgleish, ``Locus reference genomic,'' {\em Genome Med}, vol.~2, + p.~24, 2010. +\newblock See also {\small\texttt{http://www.lrg-sequence.org/}}. + +\end{thebibliography} diff --git a/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/poster.tex b/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/poster.tex new file mode 100644 index 0000000000000000000000000000000000000000..d149e5ff99f70faed5a0c4652b61828f1989678a --- /dev/null +++ b/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/poster.tex @@ -0,0 +1,123 @@ +\documentclass[final, slidestop]{beamer} + +\title{Mutalyzer 2.0: Improved sequence variant descriptions from next + generation sequencing data and gene variant databases} +\author{Jeroen F. J. Laros, Martijn Vermaat, Gerben Stouten, \\ + Johan T. den Dunnen, Peter E. M. Taschner} +\institute{Center for Human and Clinical Genetics, Leiden University Medical + Center, Leiden, The Netherlands} +\providecommand{\centerLogo}{ + \includegraphics[height = 3cm]{gen2phen_logo} +} +\providecommand{\rightLogo}{ + \includegraphics[height = 3cm]{nbic_logo} +} +\providecommand{\colOneWidth}{0.48} +\providecommand{\colTwoWidth}{0.48} + +\usetheme{lumc} + +\begin{document} + +\begin{frame}{} + \begin{myPoster} + \colorBlock{Background}{Introduction}{1}{ + Unambiguous and correct sequence variant descriptions are of utmost + importance for DNA diagnostics. The free Mutalyzer sequence variation + nomenclature checker + (\color{red}\bt{http://www.mutalyzer.nl/}\color{LUMCBlue}) names variants + following the Human Genome Variation Society (HGVS) sequence variant + nomenclature recommendations~\cite{HGVS}. + + \begin{figure} + \vspace{2cm} + \setlength{\unitlength}{0.12cm} + \input{positionpicture} + \caption{Key positions in HGVS numbering scheme.} + \label{fig:positions} + \end{figure} + + \begin{table} + \caption{Positions from Fig.~\ref{fig:positions} in HGVS genomic (g.), + non-coding (n.) and coding DNA (c.) notations.} + \colorbox{white}{ + \begin{tabular}{l|r|r|r} + Key position & \bt{g.} & \bt{n.} & \bt{c.} \\ + \hline + Genomic end & \bt{300} & \bt{1-u50} & \bt{-30-u50} \\ + Transcription start & \bt{250} & \bt{1} & \bt{-30} \\ + CDS start & \bt{220} & \bt{30} & \bt{1} \\ + CDS stop & \bt{80} & \bt{90} & \bt{60} \\ + Transcription end & \bt{70} & \bt{100} & \bt{*10} \\ + Genomic start & \bt{1} & \bt{100+d70} & \bt{*10+d70} \\ + \end{tabular} + } + \end{table} + } + \colorBlock{WhiteBg}{Conclusions}{1}{ + Variants at intergenic, exonic, intronic, CDS and UTR positions can be + easily distinguished based on their gene-centered HGVS descriptions. + Mutalyzer facilitates batch-wise conversion from dbSNP rsIDs or + chromosomal position numbering of next generation sequencing data to + transcript position numbering, as well as sequence variant checking of + locus-specific sequence variant databases (LSDBs)~\cite{LOVD}. + } + \colorBlock{SalmonBg}{Position Conversion}{1}{ + The position converter in batch mode is especially suited for NGS + applications. It can handle large numbers of genomic variant descriptions + and converts them to transcript-oriented positions. Following a semantic + check with the batch Name Checker, variant descriptions can be used for + annotation. CDS, exon and intron positions can be easily distinguished + from the HGVS descriptions and used to query LSDBs. + + \begin{figure} + { + \includegraphics[width = 0.85\textwidth, height = 18cm]{mutalyzerPositionConvert} + } + \caption{Mutalyzer 2.0 Position Converter.} + \label{figure:positionconvert} + \end{figure} + } + \colorBlock{YellowBg}{Acknowledgements}{1}{ + {\small + Funded by the European Community's Seventh Framework Programme + (FP7/2007-2013) under grant agreement no. 200754 - the GEN2PHEN project. + } + + } + \nextColumn + \colorBlock{BlueBg}{Name Checking}{1}{ + \begin{figure} + { + \includegraphics[width = 0.95\textwidth, height = 57cm]{mutalyzerNameCheck} + } + \caption{Mutalyzer 2.0 Name Checker using a LRG reference + sequence~\cite{LRG}} + \label{figure:namecheck} + \end{figure} + } + \colorBlock{GreenBg}{Interfaces}{1}{ + + \begin{tabular}{l@{\ \ --\ \ }p{25cm}} + Name Checker & Syntactic and semantic checks. + Fig.~\ref{figure:namecheck} $^*$ \\ + Syntax Checker & Syntactic checks only. $^*$ \\ + Position Converter & Convert chromosomal positions to gene-centered + notation (no semantic check) + Fig.~\ref{figure:positionconvert} $^*$ \\ + SNP Converter & Convert a dbSNP rsId to HGVS notation. $^*$ \\ + Name Generator & Contruct a HGVS notation. \\ + GenBank Uploader & Upload custom GenBank files. \\ + Webservices & Programmatic (SOAP) interface. \\ + \end{tabular} + + $^*$ Also available as a batch interface. + } + \colorBlock{Background}{References}{1}{ + {\small + \bibliography{$HOME/projects/bibliography}{} + } + } + \end{myPoster} +\end{frame} +\end{document} diff --git a/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/ul_logo.eps b/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/ul_logo.eps new file mode 120000 index 0000000000000000000000000000000000000000..34ff36adfdd3334d097d7f00218acd90c7beac5d --- /dev/null +++ b/doc/Poster_19_20-04-11_NBIC_Mutalyzer2/ul_logo.eps @@ -0,0 +1 @@ +/local/projects/poster/trunk/ul_logo.eps \ No newline at end of file diff --git a/doc/Presentation_24-02-11_HumGen_Mutalyzer2/picture.tex b/doc/Presentation_24-02-11_HumGen_Mutalyzer2/picture.tex new file mode 100644 index 0000000000000000000000000000000000000000..2a8887fb45b8a395874ba8636ad9a94b0a6152f7 --- /dev/null +++ b/doc/Presentation_24-02-11_HumGen_Mutalyzer2/picture.tex @@ -0,0 +1,40 @@ +\providecommand{\positionpicture}{ + \vspace{-0.5cm} + \begin{center} + \fbox{ + \begin{picture}(300, 60)(0, 0) + \put(0, 30){\line(1, 0){300}} % Genomic sequence. + \linethickness{4pt} + \put(50, 30){\line(1, 0){30}} % Non-coding parts of the exons. + \put(220, 30){\line(1, 0){10}} + \linethickness{12pt} + \put(80, 30){\line(1, 0){20}} % Coding parts of the exons. + \put(150, 30){\line(1, 0){20}} + \put(200, 30){\line(1, 0){20}} + + \linethickness{0.5pt} + \put(20, 50){\scriptsize{Transcription start}} + \put(50, 45){\vector(0, -1){10}} + \put(200, 50){\scriptsize{Transcription end}} + \put(230, 45){\vector(0, -1){10}} + + \put(70, 0){\scriptsize{CDS start}} + \put(80, 10){\vector(0, 1){10}} + \put(210, 0){\scriptsize{CDS stop}} + \put(220, 10){\vector(0, 1){10}} + + \put(0, 0){\scriptsize{Genomic end}} + \put(0, 10){\vector(0, 1){10}} + \put(255, 0){\scriptsize{Genomic start}} + \put(300, 10){\vector(0, 1){10}} + + \put(95, 50){\color{yellow}\scriptsize{Variant A}\color{white}} + \put(115, 45){\color{yellow}\vector(0, -1){10}\color{white}} + + \put(140, 50){\color{yellow}\scriptsize{Variant B}\color{white}} + \put(160, 45){\color{yellow}\vector(0, -1){10}\color{white}} + \end{picture} + } + \end{center} + \bigskip +}