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Added FORMAT END to support sample-specific $<$*$>$ alleles (alternat…
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…ive to #435)
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Daniel Cameron committed Feb 27, 2024
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25 changes: 24 additions & 1 deletion VCFv4.5.draft.tex
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Expand Up @@ -477,6 +477,7 @@ \subsubsection{Genotype fields}
ADR & R & Integer & Read depth for each allele on the reverse strand \\
DP & 1 & Integer & Read depth \\
EC & A & Integer & Expected alternate allele counts \\
END & 1 & Integer & End position on CHROM (used with multi-sample $<$*$>$ alleles) \\
FT & 1 & String & Filter indicating if this genotype was ``called'' \\
GL & G & Float & Genotype likelihoods \\
GP & G & Float & Genotype posterior probabilities \\
Expand Down Expand Up @@ -504,6 +505,7 @@ \subsubsection{Genotype fields}
\item DP (Integer): Read depth at this position for this sample.
\item EC (Integer): Comma separated list of expected alternate allele counts for each alternate allele in the same order as listed in the ALT field.
Typically used in association analyses.
\item END (Integer): end position of the $<$*$>$ reference block for this sample.
\item FT (String): Sample genotype filter indicating if this genotype was ``called'' (similar in concept to the FILTER field).
Again, use PASS to indicate that all filters have been passed, a semicolon-separated list of codes for filters that fail, or `.' to indicate that filters have not been applied.
These values should be described in the meta-information in the same way as FILTERs.
Expand Down Expand Up @@ -1739,6 +1741,26 @@ \subsection{Representing unspecified alleles and REF-only blocks (gVCF)}
\normalsize
\subsubsection{Multi-sample REF-only blocks}
When handling VCFs with multiple samples, the length of the $<$*$>$ reference blocks can differ.
To account for this, a sample-specific END can be specified via the FORMAT END field.
If any FORMAT END value exists, the INFO END must be present and equal the largest FORMAT END value.
Positions implicitly called by a preceding $<$*$>$ for a sample must have $GT$/$LGT$ set to the missing value (`.') and have no other FORMAT fields present.
If $LAA$ is present and a reference block is defined for a given sample, the $<$*$>$ allele must be included as an $LAA$ allele for that sample even though the $LGT$ is $0/0$.
For example, the genotype-only version of the above example with a second sample with no variants:
\scriptsize
\begin{flushleft}
\begin{tabular}{ l l l l l l l l }
POS & REF & ALT & INFO & FORMAT & SampleA & SampleB \\
4370 & G & $<$*$>$ & END=4416 & LGT:LAA:END & 0/0:0,1:4388 & 0/0:0,1:4416 \\
4389 & T & TC & . & LGT:LAA:END & 0/1:0,1:. & . \\
4390 & C & $<$*$>$ & END=4416 & LGT:LAA:END & 0/0:0,1:4416 & . \\
\end{tabular}
\end{flushleft}
\normalsize
\pagebreak
\subsection{Representing copy number variation}
\label{cnv}
Expand Down Expand Up @@ -2589,7 +2611,8 @@ \section{List of changes}
\subsection{Changes between VCFv4.5 and VCFv4.4}
\begin{itemize}
\item Added local allele support
\item Added local allele support (FORMAT LAA, LGT, LAD, LPL) to reduce the size of multi-sample VCFs and enable lossless merging.
\item Added FORMAT END to support sample-specific $<$*$>$ alleles.
\end{itemize}
\subsection{Changes between VCFv4.4 and VCFv4.3}
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