Whole genome sequencing for investigation of age-related chronic disease in HANDLS participants
The HANDLS study requires whole genome sequencing processing to expand research on whether genetic variants contribute to age-related chronic diseases, using samples collected over 20 years, many stored for 10 or more years. The contractor must deliver plates sufficient to run 600 samples and perform whole genome sequencing on the NovaSeq X-Plus platform using 25B-300 flow cells, 150 bp paired-end runs, PCR-free libraries, and minimum 30x coverage. Primary and secondary analysis must include read alignment, variant calling, quality control, and joint variant calling with the DRAGEN Germline pipeline. Deliverables include per-sample CRAMs, gVCFs, VCFs, a joint multi-sample VCF, structural variant and CNV calls, QC reports, a data dictionary, and a sample manifest while preserving participant confidentiality. Following data delivery, the contractor may provide technical consultations and must ship leftover samples overnight on dry ice to the Biomedical Research Center in Baltimore, MD.