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.