Exclude Interval Files
To improve accuracy, the DRAGEN CNV Pipeline excludes genomic intervals if one or more the target intervals failed at least one quality requirement. The excluded intervals are reported to *.excluded_intervals.bed.gz file. The file identifies the regions of the genome that are not callable for CNV analysis and describes the reason intervals were excluded in the fourth column. The following are the possible reasons for exclusion.
Exclusion Reason |
Description |
Command Line Option |
---|---|---|
NON_KMER_UNIQUE |
Nonunique Kmer bases are larger than 50% of interval. |
Not applicable. This reason only applies to self-normalization mode. |
BLACKLIST |
Interval overlaps with blacklist larger than threshold. |
--cnv-blacklist-min-overlap |
PON_MAX_PERCENT_ZERO_SAMPLES |
Number of PON samples with 0 coverage is larger than threshold. |
--cnv-max-percent-zero-targets |
PON_TARGET_FACTOR_THRESHOLD |
Median coverage of interval is lower than threshold of overall median coverage. |
--cnv-target-factor-threshold |
PON_MISSING_INTERVAL |
Target interval not found in PON |
Not applicable. |