Craniosynostosis_WGS

• Whole-genome sequencing of 36 trios and 7 unrelated individuals of Craniosynostosis cohort (2024)
• Germline variant analysis
• Provides vcf, maf, or txt file (For bam files, we're trying to upload them in SRA)

Overview of Craniosynostosis_WGS analysis

Text files

01.denovo_shortvariant

• Octopus + Strelka + GATK haplotype caller
• De novo calls for 36 trios

02.unrelated_shortvariant

• Octopus + GATK haplotypecaller
• Short variant analysis for 7 unrelated trios

04.CNA_SV

• CNA or SV call using multiple caller
• Divided by target bin