From 0879ed972409e475a48c10b4b5eac07d19f126e0 Mon Sep 17 00:00:00 2001
From: "J.F.J. Laros" <j.f.j.laros@lumc.nl>
Date: Fri, 28 Sep 2012 10:02:36 +0000
Subject: [PATCH] Fixed some errors and unclear things in the presentation of
16-09-12.
git-svn-id: https://humgenprojects.lumc.nl/svn/mutalyzer/trunk@610 eb6bd6ab-9ccd-42b9-aceb-e2899b4a52f1
---
.../presentation.tex | 28 +++++++++----------
1 file changed, 14 insertions(+), 14 deletions(-)
diff --git a/doc/Presentation_26-09-12_Lab-J_Descriprion_extract/presentation.tex b/doc/Presentation_26-09-12_Lab-J_Descriprion_extract/presentation.tex
index 82ef858d..3da0fd18 100644
--- a/doc/Presentation_26-09-12_Lab-J_Descriprion_extract/presentation.tex
+++ b/doc/Presentation_26-09-12_Lab-J_Descriprion_extract/presentation.tex
@@ -2,7 +2,7 @@
\title{Extracting HGVS descriptions}
\providecommand{\myConference}{Work discussion}
-\providecommand{\myDate}{Thursday, 24 February 2011}
+\providecommand{\myDate}{Thursday, 27 September 2012}
\author{Jeroen F. J. Laros}
\providecommand{\myGroup}{Leiden Genome Technology Center}
\providecommand{\myDepartment}{Department of Human Genetics}
@@ -227,7 +227,7 @@
A complex variant that leads to a simple protein change:
- \bt{NM\_002001.2:[c.10\_12delinsAAA;102G>A]}
+ \bt{NM\_002001.2:c.[10\_12delinsAAA;102G>A]}
\bt{NP\_001992.1:p.Ala4Lys}
\bigskip
@@ -245,7 +245,7 @@
Verifying the validity of a variant description is not enough:
\begin{itemize}
- \item Both \bt{5\_7delinsATA} and \bt{[6G>A;7C>A]} are valid.
+ \item Both \bt{5\_7delinsATA} and \bt{[5G>A;7C>A]} are valid.
\item We want one representation.
\end{itemize}
\bigskip
@@ -352,13 +352,13 @@
Input:
- \bt{NM\_002001.2:n.[109G>T;139G>T;159del]}
+ \bt{NM\_002001.2:c.[10G>T;40G>T;60del]}
\bigskip
\pause
Old:
- \bt{NM\_002001.2:n.[109G>T;139G>T;159del]}
+ \bt{NM\_002001.2:c.[10G>T;40G>T;60del]}
\bt{NM\_002001.2:p.?}
\bigskip
@@ -366,7 +366,7 @@
New:
- \bt{NM\_002001.2:n.[109G>T;139G>T;159del]}
+ \bt{NM\_002001.2:c.[10G>T;40G>T;60del]}
\bt{NM\_002001.2:p.[Ala4Ser;Ala14Ser;Asp21Metfs*4]}
\end{frame}
@@ -376,13 +376,13 @@
Input:
- \bt{NM\_002001.2:n.[159del;162\_163del]}
+ \bt{NM\_002001.2:c.[60del;63\_64del]}
\bigskip
\pause
Old:
- \bt{NM\_002001.2:n.[159del;162\_163del]}
+ \bt{NM\_002001.2:c.[60del;63\_64del]}
\bt{NM\_002001.2:p.?}
\bigskip
@@ -390,7 +390,7 @@
New:
- \bt{NM\_002001.2:n.[159del;162\_163del]}
+ \bt{NM\_002001.2:c.[60del;63\_64del]}
\bt{NM\_002001.2:p.Asp21\_Val22delinsSer}
\end{frame}
@@ -400,13 +400,13 @@
Input ($110$ and $111$ have the same nucleotide):
- \bt{NM\_002001.2:n.[109del;111del]}
+ \bt{NM\_002001.2:c.[10del;12del]}
\bigskip
\pause
Old:
- \bt{NM\_002001.2:n.[109del;111del]}
+ \bt{NM\_002001.2:c.[10del;12del]}
\bt{NM\_002001.2:p.?}
\bigskip
@@ -414,7 +414,7 @@
New:
- \bt{NM\_002001.2:n.109\_110del}
+ \bt{NM\_002001.2:c.10\_11del}
\bt{NM\_002001.2:p.Ala4Hisfs*27}
\end{frame}
@@ -430,7 +430,7 @@
Old:
- \bt{NM\_002001.2:n.139\_149delinsTCCTTACTGTG}
+ \bt{NM\_002001.2:c.40\_50delinsTCCTTACTGTG}
\bt{NM\_002001.2:p.Ala14\_Phe17delinsSerLeuLeuCys}
\bigskip
@@ -438,7 +438,7 @@
New:
- \bt{NM\_002001.2:n.[139G>T;149T>G]}
+ \bt{NM\_002001.2:c.[40G>T;50T>G]}
\bt{NM\_002001.2:p.[Ala14Ser;Phe17Cys]}
\end{frame}
--
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