A structural variation discovery pipeline for Illumina short-read whole-genome sequencing (WGS) data.

Requirements/expectations

Data

• Illumina short-read whole-genome CRAMs or BAMs, aligned to hg38 with bwa-mem. BAMs must also be indexed.
• Indexed GVCFs produced by GATK HaplotypeCaller, or a jointly genotyped VCF.
• Family structure definitions file in PED format. Sex aneuploidies (detected in EvidenceQC) should be entered as sex = 0.
• Authors recommend filtering out samples with a high percentage of improperly paired reads (>10% or an outlier for your data) as technical outliers prior to running GatherSampleEvidence. A high percentage of improperly paired reads may indicate issues with library prep, degradation, or contamination. Artifactual improperly paired reads could cause incorrect SV calls, and these samples have been observed to have longer runtimes and higher compute costs for GatherSampleEvidence.

Sample ID requirements

Sample IDs must:

• Be unique within the cohort
• Contain only alphanumeric characters and underscores (no dashes, whitespace, or special characters)

Sample IDs should not:

• Contain only numeric characters
• Be a substring of another sample ID in the same cohort
• Contain any of the following substrings: chr, name, DEL, DUP, CPX, CHROM

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Job Costs*

Initial jobs with this workflow have had costs from $15-$25.

*Job cost examples are for estimates only. To get a more accurate idea of job costs, try running a single job before running many jobs.