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Restructured where is PEDIGREE meta explained
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Cristina Yenyxe Gonzalez Garcia authored Jul 24, 2019
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Showing 1 changed file with 13 additions and 20 deletions.
33 changes: 13 additions & 20 deletions VCFv4.3.tex
Original file line number Diff line number Diff line change
Expand Up @@ -248,12 +248,23 @@ \subsubsection{Pedigree field format}
##PEDIGREE=<ID=ChildID,Father=FatherID,Mother=MotherID>
##PEDIGREE=<ID=SampleID,Name_1=Ancestor_1,...,Name_N=Ancestor_N>
\end{verbatim}
\noindent or a link to a database:

The first two lines assert that the DNA in genomes TumourSample and SomaticNonTumour is asexually or clonally derived with mutations from the DNA in genome OriginalID.
The third line describes a family relationship between genomes.
A VCF will therefore contain one entry per trio.
The fourth line is an example of the most general form of a pedigree line.
It means that the genome SampleID is derived from the N $\ge$ 1 genomes Ancestor1, ..., AncestorN.

TODO: Text describing meaning of Mother and Father well-known ancestor tags
and explaining how to represent a PED file as in-line \#\#PEDIGREE trios.
Noting alternatively to use \#\#pedigreeDB=URL to point to an external PED file.

\noindent If samples and the relationships between them are described in an external resource such as a database or PED file, is it also possible to provide a link:
\begin{verbatim}
##pedigreeDB=URL
\end{verbatim}

\noindent See \ref{ClonalPedigree} (clonal relationships) and \ref{FamilialPedigree} (trios and families) for details.
\noindent See \ref{ClonalPedigree} for more details about clonal relationships.


\subsection{Header line syntax}
Expand Down Expand Up @@ -1258,11 +1269,6 @@ \subsubsection{Clonal derivation relationships}
\end{verbatim}

This line asserts that the DNA in genome DerivedID is asexually or clonally derived with mutations from the DNA in genome OriginalID.
This is the asexual analog of the VCF format that has been proposed for family relationships between genomes (see~\ref{FamilialPedigree}), in which there is one entry per trio of the form:

\begin{verbatim}
##PEDIGREE=<ID=ChildID,Mother=MotherID,Father=FatherID>
\end{verbatim}

Let's consider a cancer patient VCF file with 4 genomes: germline, primary\_tumor, secondary\_tumor1, and secondary\_tumor2 as illustrated in Figure 10.
The primary\_tumor is derived from the germline and the secondary tumors are each derived independently from the primary tumor, in all cases by clonal derivation with mutations.
Expand Down Expand Up @@ -1380,19 +1386,6 @@ \subsection{Representing unspecified alleles and REF-only blocks (gVCF)}
\end{flushleft}
\normalsize

\subsection{Describing family relationships}
\label{FamilialPedigree}

This is the VCF format that has been proposed for family relationships between genomes, in which there is one entry per trio of the form:

\begin{verbatim}
##PEDIGREE=<ID=ChildID,Mother=MotherID,Father=FatherID>
\end{verbatim}

TODO: Text describing meaning of Mother and Father well-known ancestor tags
and explaining how to represent a PED file as in-line \#\#PEDIGREE trios.
Noting alternatively to use \#\#pedigreeDB=URL to point to an external PED file.

\pagebreak
\section{BCF specification}

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