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[ ] Check if this query really gives all overlapping pathogenic CNVs from the NGSD:
SELECT rcc.class, cnv.start, cnv.end FROM cnv INNER JOIN report_configuration_cnv rcc ON cnv.id = rcc.cnv_id WHERE rcc.class IN ('4', '5') AND cnv.chr = :0 AND cnv.start <= :1 AND :2 <= cnv.end
[ ] only annotate if overlap in both directions is at least 10% of the CNV
The text was updated successfully, but these errors were encountered:
marc-sturm
changed the title
CNV annotation: overlapping pathogenic CNVs
NGSDAnnotateCNV: improve annotation of overlapping pathogenic CNVs
Nov 8, 2024
[ ] Check if this query really gives all overlapping pathogenic CNVs from the NGSD:
[ ] only annotate if overlap in both directions is at least 10% of the CNV
The text was updated successfully, but these errors were encountered: