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Clarify meaning of "genomic content" for ClinVar/Population SV evaluation
enhancement
New feature or request
#21
opened Nov 20, 2023 by
holtgrewe
Only report single gene / region where applicable
enhancement
New feature or request
#13
opened Nov 14, 2023 by
holtgrewe
Integrate disease gene annotation
enhancement
New feature or request
#12
opened Nov 14, 2023 by
holtgrewe
Integrate PVS1 with rules 2E of DEL/DUP
enhancement
New feature or request
#6
opened Nov 13, 2023 by
holtgrewe
Properly implement PVS1 rule set.
enhancement
New feature or request
#5
opened Nov 13, 2023 by
holtgrewe
ProTip!
Exclude everything labeled
bug
with -label:bug.