Whole genome sequencing for investigation of age-related chronic disease in HANDLS participants
The HANDLS study requires whole genome sequencing services to expand research on genetic variants contributing to age-related chronic diseases, because the Government lacks the facilities and resources to perform the work consistently with prior HANDLS WGS. The contractor will sequence 600 samples, some stored for ten or more years, on the NovaSeq X-Plus platform with 25B-300 flow cells, 150 bp paired-end runs, PCR-free libraries, minimum 30x coverage, DRAGEN Germline pipeline, joint variant calling, and comprehensive QC. Deliverables include per-sample CRAMs, gVCFs, VCFs, a joint multi-sample VCF, structural variant and CNV calls, a QC report, data dictionary, flagged sample manifest, and written methods documentation. The contractor will also provide technical consultations and attend Government lab meetings upon request, and ship leftover samples overnight on dry ice to the Biomedical Research Center in Baltimore, MD. Amendment 1 adds responses to questions and a revised statement of work.