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MattWellie
reviewed
Jun 12, 2026
…have for the other chr?
Co-authored-by: Matt Welland <mattwellie@gmail.com>
… reads them as variants, not reference blocks
…ectly at different positions
EddieLF
reviewed
Jul 7, 2026
…ll copy the alt values when there is only 1 alt between the two parents. Also added better logic for inheriting multiallelic sites where it will check for matching alts, rather than taking the first value
…uire enourmous disk space
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Purpose
Synthesize a 'dummy' male proband gVCF from a pair of parental gVCFs (RD-1168).
The ravenscroft-rpl cohort contains only unaffected parental duos (no probands), so to enable
trio analysis in seqr we create a synthetic proband that inherits, at worst case, every variant
its parents carry:
The output is a spec-valid GATK-style gVCF with <NON_REF> reference blocks, so that once it is
combined with the real samples it reads as confident hom-ref (0/0) - not missing - at sites that
are variant only in other families. The dummy's reference blocks are the intersection of the two
parents' hom-ref bands, split at the union of their variant sites.
This phase is gVCF synthesis only. Metamist registration (participant/sample/SG creation,
pedigree import, gvcf analysis linking) and the VDS/seqr workflow wiring are handled separately.
Proposed Changes
Checklist