Element sequencing of the CEPH/Utah Platinum Plus pedigree: Sample 2187-E
Whole genome sequencing libraries were prepared using DNA extracted from whole blood. PCR-free libraries were prepared using mechanical shearing (Covaris, Cat# 500295), yielding ~350 bp fragments, and the Element Elevate library preparation kit (Element Biosciences, Cat# 830-00008). Linear libraries were quantified by quantitative PCR and sequenced with Cloudbreak Freestyle or UltraQ. FASTQ files were aligned (using BWA) to a GRCh38/hg38 reference genome (https://github.com/PacificBiosciences/reference_genomes/tree/main/reference_genomes/human_GRCh38_no_alt_analysis_set), which is a modified version of the human GRCh38 assembly GCA_000001405.15. One library was prepared and sequenced per subject. To achieve appropriate sequencing depth, most libraries were sequenced across multiple flow cells, resulting in more than one FASTQ file. In this case, multiple alignment files were merged using samtools.