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\item PSO (List of integers): List of phase set ordinals.
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For each phase-set name, defines the order in which variants are encountered when traversing a derivate chromosome.
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For each phase-set name, defines the order in which variants are encountered when traversing a derivative chromosome.
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The missing value '$.$' should be used when the corresponding PSO value is missing.
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For each phase-set name, PSO should be defined if any allele with that phase-set name on any record is symbolic structural variant or in breakpoint notation.
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Variants in breakpoint notation must have the same PSL and PSO on both records.
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Without explicitly specifying the derivate chromosome traversal order, multiple derivate chromosome reconstructions are possible.
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Without explicitly specifying the derivative chromosome traversal order, multiple derivative chromosome reconstructions are possible.
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Take for example this tandem duplication in a triploid organism with SNVs (ID/QUAL/FILTER columns removed for clarity):
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\vspace{0.5em}
@@ -829,7 +829,7 @@ \section{INFO keys used for structural variants}
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\item BFB - breakage fusion bridge
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\item DOUBLEMINUTE - Double minute
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\end{itemize}
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The sematics of other $EVENTTYPE$ values is implementation-defined.
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The semantics of other $EVENTTYPE$ values is implementation-defined.
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The use of $EVENT$ is not restricted to structural variation and can also be used to associate non-symbolic alleles.
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Such linking is useful for scenarios such as kataegis or when there is variant position ambiguity in segmentally duplicated regions.
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@@ -2555,7 +2555,7 @@ \subsection{Changes between VCFv4.4 and VCFv4.3}
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\item Added tandem repeat support ($<$CNV:TR$>$, RN, RUS, RUL, RB, CIRB, RUC, CIRUC, RUB)
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\item Redefined INFO CN as allele-specific copy number and FORMAT CN as total copy number.
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\item Redefined INFO and FORMAT CN to support non-integer copy numbers.
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\item Added support for phasing and derivate chromosome reconstruction in the presence of SVs (PSL, PSO, PSQ)
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\item Added support for phasing and derivative chromosome reconstruction in the presence of SVs (PSL, PSO, PSQ)
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\item Added SVCLAIM to disambiguate copy number based $<$DEL$>$ and $<$DUP$>$ variants from breakpoint based ones.
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\item Conceptually separated variant detection and interpretation.
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\item Added EVENTTYPE/EVENT to enable the multiple records encoding complex genomic rearrangements to be grouped together.
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