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Commit c737a09a authored by Laros's avatar Laros
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Modified the NBIC poster, mainly rephrasing.

Added affiliations to the list of authors in the ESHG abstract.


git-svn-id: https://humgenprojects.lumc.nl/svn/mutalyzer/trunk@517 eb6bd6ab-9ccd-42b9-aceb-e2899b4a52f1
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......@@ -2,7 +2,7 @@
\bibitem{HGVS}
{Human Genome Variation Society}.
\newblock \begin{small}\texttt{http://www.hgvs.org/}\end{small}.
\newblock \begin{small}\texttt{http://www.hgvs.org/mutnomen/}\end{small}.
\bibitem{LRG}
R.~Dalgleish and et~al.
......
......@@ -30,12 +30,12 @@
\vspace{1cm}
Initial construction of variant descriptions, however, requires comparison
of the reference sequence and the variant sequence and basic knowledge of
the HGVS recommendations. With the arrival of long read sequencers (e.g.
PacBio) and the rise of sophisticated variant callers, the chance of
finding a complex variant increases and so does the need to describe these
variants.
Initial construction of variant descriptions, however, requires
comparison of reference sequences and variant sequences and basic
knowledge of the HGVS recommendations. With the arrival of long read
sequencers (e.g., PacBio) and the rise of sophisticated variant callers,
the chance of finding complex variants increases and so does the need to
describe these variants.
\vspace{1cm}
......@@ -50,7 +50,7 @@
\vspace{1cm}
To aid in the construction of a variant description, Mutalyzer includes
To aid in the construction of variant descriptions, Mutalyzer includes
the Name Generator (Fig.~\ref{figure:namegenerator}), alleviating the
need for knowledge of the HGVS recommendations. However, comparison of
reference and variant sequences still has to be done by the user and can
......@@ -60,11 +60,11 @@
The new Description Extractor can be used to automatically construct
variant descriptions according to the HGVS recommendations by sequence
comparison. The algorithm closely follows the human approach to
describe a variant. It will first find the ``area of change'' and then
describe variants. It will first find the ``area of change'' and then
finds the largest overlap between the original area and the area in the
variant sequence. This process is repeated until the smallest
description is found. This not only helps clinicians to generate the
correct description, but its implementation also allows automation of
description is found. This not only helps clinicians to generate
correct descriptions, but its implementation also allows automation of
the description process.
\vspace{1cm}
......@@ -109,12 +109,12 @@
}
\nextColumn
\colorBlock{WhiteBg}{Conclusions}{1}{
\colorBlock{WhiteBg}{Conclusions and further research}{1}{
With this proof-of-concept we have shown that it is feasible to
automatically generate correct variant descriptions following the HGVS
recommendations based on a comparison of the original sequence and the
observed sequence. The implementation relieves the user from the often
complex task of manually creating a description and guarantees
recommendations based on comparisons of reference sequences and
observed sequences. The implementation relieves the user from the often
complex task of manually creating descriptions and guarantees
conformity to HGVS.
\vspace{1cm}
......@@ -122,8 +122,8 @@
As future work we plan to implement description extraction from reference
sequences either identified by accession number or manually uploaded.
This will enable, for example, easy construction of descriptions for the
difference between different versions of reference sequence, either
genomic or transcript.
difference between different versions of genomic or transcript reference
sequences.
}
\colorBlock{BlueBg}{Name Checking}{1}{
\begin{figure}
......
......@@ -2,9 +2,17 @@
\usepackage{fullpage}
\newcommand{\superscript}[1]{\ensuremath{^{\textrm{#1}}}}
\newcommand{\shl}{\hfill\phantom{.}}
\frenchspacing
\author{J.F.J. Laros \and M. Vermaat \and J.T. den Dunnen \and P.E.M. Taschner}
\author{J.F.J. Laros$^{1,2}$ \and M. Vermaat$^{1,2}$ \and J.T. den Dunnen$^1$
\and P.E.M. Taschner$^1$\\
\small $1$ Department of Human Genetics, Leiden Genome Technology Center,
Leiden University Medical Center,\shl\\
\small \,\ \ Leiden, The Netherlands\shl\\
\small $2$ Netherlands Bioinformatics Centre\shl\\
\texttt{J.F.J.Laros@lumc.nl}
}
\title{Generating complex descriptions of sequence variants using HGVS
nomenclature based on sequence comparison.\footnote{Funded in part by the
European Community's Seventh Framework Programme (FP7/2007-2013) under grant
......
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