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add ALT regex for VCFv4.4 too
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jmmut committed Jun 15, 2020
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4 changes: 3 additions & 1 deletion VCFv4.4.tex
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Expand Up @@ -317,8 +317,9 @@ \subsubsection{Fixed fields}
\item ALT --- alternate base(s): Comma separated list of alternate non-reference alleles.
These alleles do not have to be called in any of the samples.
Options are base Strings made up of the bases A,C,G,T,N (case insensitive) or the `*' symbol (allele missing due to overlapping deletion) or a MISSING value `.' (no variant) or an angle-bracketed ID String (``$<$ID$>$'') or a breakend replacement string as described in the section on breakends.
Options are base Strings made up of the bases A,C,G,T,N (case insensitive) or the `*' symbol (allele missing due to overlapping deletion) or a MISSING value `.' (no variant) or an angle-bracketed ID String (``$<$ID$>$'') or a breakend replacement string as described in Section \ref{Breakends}.
If there are no alternative alleles, then the MISSING value must be used.
In other words, the ALT field must be a symbolic allele, or a breakend replacement string, or match the regular expression \texttt{\^{}([ACGTNacgtn]+|\string\*|\string\.)\$}.
Tools processing VCF files are not required to preserve case in the allele String, except for IDs, which are case sensitive.
(String; no whitespace, commas, or angle-brackets are permitted in the ID String itself)
\item QUAL --- quality: Phred-scaled quality score for the assertion made in ALT. i.e.\ $-10log_{10}$ prob(call in ALT is wrong).
Expand Down Expand Up @@ -876,6 +877,7 @@ \subsection{Encoding Structural Variants}
\normalsize
\subsection{Specifying complex rearrangements with breakends}
\label{Breakends}
An arbitrary rearrangement event can be summarized as a set of novel \textbf{adjacencies}. Each adjacency ties together $2$ \textbf{breakends}.
The two breakends at either end of a novel adjacency are called \textbf{mates}.
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