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 82ef858df5eaa382e4a47472c7b47060f2b4ee3f..3da0fd18f4590ee4655481cc7a75f52ff0e003ad 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}