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lgmgeo / AnnotSV

Annotation and Ranking of Structural Variation
GNU General Public License v3.0
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ACMG 2019 Criteria #6

Closed rvaldes closed 3 years ago

rvaldes commented 4 years ago

Have you planned to update your SV ranking according to the 2019 ACMG Criteria? Thanks!

lgmgeo commented 4 years ago

Yes, for sure, that makes sense for me! Thank you for your suggestion (and thanks to the other users who also contacted me about that). But this will still take some time because new features to investigate are piling up... I apologize for the inconvenience of this delay,

Best regards, Véronique

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

lgmgeo commented 3 years ago

AnnotSV 3.0 is alive! The updated ACMG guidelines for SV ranking (Riggs et al 2020) have been implemented.

The comprehensive and detailed scoring guidelines are available in the Scoring_Criteria_AnnotSV_latest.xlsx file (see Table1 for loss SV and Table2 for gain SV).

Happy exploring ;o)